Hedgehog Signaling Pathway Database
 
Human Mutations - Lrp2
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
          N > S 83 N   DBSNP:rs6716834      
          H > Q 1083 N   DBSNP:rs2302691      
          A > P 1287 N   SWISS:VAR_005421      
          V > G 1942 N   DBSNP:rs13391626      
          R > K 2012 N   DBSNP:rs4667596      
          I > T 2065 N   DBSNP:rs2228168      
          A > T 2872 N   DBSNP:rs4668123      
          R > M 3011 N   DBSNP:rs11674973      
          R > H 3305 N   DBSNP:rs3213760      
          R > Q 3765 N   DBSNP:rs9646779      
          K > E 4094 N   DBSNP:rs2075252      
          I > L 4210 N   SWISS:VAR_005424      
          I > L 4210 N   DBSNP:rs4667591      
          A > A 21 S   DBSNP:rs1559014      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
          V > V 675 S   DBSNP:rs830994      
          T > T 820 S   DBSNP:rs2241190      
          T > T 1018 S   DBSNP:rs2075249      
          T > T 1023 S   DBSNP:rs831043      
          A > A 1220 S   DBSNP:rs831042      
          C > C 1625 S   DBSNP:rs11893040      
          S > S 1700 S   DBSNP:rs2302694      
          R > R 1953 S   DBSNP:rs11886219      
          V > V 2270 S   DBSNP:rs2228170      
          R > R 2542 S   DBSNP:rs13397109      
          Q > Q 3501 S   DBSNP:rs13400618      
          N > N 3782 S   DBSNP:rs7598640      
          I > I 4371 S   DBSNP:rs990626      
          H > H 4385 S   DBSNP:rs16856476      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169813181 C T forward           DBSNP:rs7598209      
intronic 169813878 A T reverse           DBSNP:rs1003456      
intronic 169815128 C T forward           DBSNP:rs6754932      
intronic 169815518 G T forward           DBSNP:rs12476376      
intronic 169815829 C T forward           DBSNP:rs11691854      
intronic 169816571 A G forward           DBSNP:rs7576280      
intronic 169816610 C G forward           DBSNP:rs11693676      
intronic 169816973 A G forward           DBSNP:rs11892075      
intronic 169818149 C T forward           DBSNP:rs12373565      
intronic 169818245 G T forward           DBSNP:rs7424748      
intronic 169818569 G T forward           DBSNP:rs11674531      
intronic 169820486 A T forward           DBSNP:rs13003267      
intronic 169820487 A G forward           DBSNP:rs13003777      
intronic 169820529 C T forward           DBSNP:rs6741849      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169822063 C G forward           DBSNP:rs6746604      
intronic 169822161 A G reverse           DBSNP:rs990627      
intronic 169822906 C T reverse           DBSNP:rs2268380      
intronic 169823128 C T reverse           DBSNP:rs2268379      
intronic 169823383 C T reverse           DBSNP:rs2268378      
intronic 169823876 A G forward           DBSNP:rs6725805      
intronic 169823914 A G forward           DBSNP:rs16856488      
intronic 169824313 C T reverse           DBSNP:rs2075253      
intronic 169825146 A C forward           DBSNP:rs12988055      
intronic 169825180 A G forward           DBSNP:rs6733111      
intronic 169825222 A G forward           DBSNP:rs6733122      
intronic 169826029 G T reverse           DBSNP:rs2284681      
intronic 169826255 G T reverse           DBSNP:rs2284680      
intronic 169826817 A G forward           DBSNP:rs4668122      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169827445 A G reverse           DBSNP:rs2239591      
intronic 169827568 A T reverse           DBSNP:rs2239590      
intronic 169827590 A C reverse           DBSNP:rs2239589      
intronic 169829145 A G forward           DBSNP:rs4667592      
intronic 169829904 A C forward           DBSNP:rs6757391      
intronic 169830012 A G forward           DBSNP:rs12617198      
intronic 169830279 A G forward           DBSNP:rs13407803      
intronic 169830596 A G forward           DBSNP:rs6761244      
intronic 169830840 A G forward           DBSNP:rs4625869      
intronic 169830991 A C forward           DBSNP:rs1123904      
intronic 169830998 C T forward           DBSNP:rs1123905      
intronic 169831604 A G forward           DBSNP:rs12692892      
intronic 169831631 A T forward           DBSNP:rs13386120      
intronic 169831801 C T forward           DBSNP:rs10192078      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169832447 G T reverse           DBSNP:rs755631      
intronic 169833157 G T reverse           DBSNP:rs1006738      
intronic 169833393 A G forward           DBSNP:rs10198527      
intronic 169833729 G T reverse           DBSNP:rs3944004      
intronic 169833893 A G forward           DBSNP:rs4667593      
intronic 169834013 A T forward           DBSNP:rs4667594      
intronic 169834151 A G forward           DBSNP:rs11679947      
intronic 169834228 A T forward           DBSNP:rs10177799      
intronic 169834468 G T reverse           DBSNP:rs10490132      
intronic 169835256 C T forward           DBSNP:rs9967871      
intronic 169836079 A T forward           DBSNP:rs11886411      
intronic 169836338 C T forward           DBSNP:rs10190601      
intronic 169836915 C G forward           DBSNP:rs10191176      
intronic 169836965 A T reverse           DBSNP:rs2075251      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169837959 C T reverse           DBSNP:rs3815573      
intronic 169839739 G T forward           DBSNP:rs3732041      
intronic 169839974 A T forward           DBSNP:rs10930346      
intronic 169840080 C T forward           DBSNP:rs11900169      
intronic 169840082 C T forward           DBSNP:rs11900170      
intronic 169840148 G T forward           DBSNP:rs11901315      
intronic 169840845 G T forward           DBSNP:rs13021137      
intronic 169840874 A C forward           DBSNP:rs12692893      
intronic 169842257 A G forward           DBSNP:rs6759013      
intronic 169842381 C T forward           DBSNP:rs6730825      
intronic 169842601 C T forward           DBSNP:rs13011165      
intronic 169842627 A G forward           DBSNP:rs13034796      
intronic 169842707 A C forward           DBSNP:rs12692894      
intronic 169843283 G T reverse           DBSNP:rs2268377      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169843370 A G forward           DBSNP:rs9646777      
intronic 169843615 C T forward           DBSNP:rs9646778      
intronic 169844145 G T forward           DBSNP:rs3821124      
intronic 169846251 C T reverse           DBSNP:rs2268375      
intronic 169846288 C T forward           DBSNP:rs11902300      
intronic 169846364 A C reverse           DBSNP:rs2268374      
intronic 169847806 C T forward           DBSNP:rs11888479      
intronic 169848825 A G forward           DBSNP:rs11884342      
intronic 169849794 A T forward           DBSNP:rs11896574      
intronic 169850847 A G reverse           DBSNP:rs2239602      
intronic 169851025 C T reverse           DBSNP:rs2239601      
intronic 169852103 A G reverse           DBSNP:rs4140872      
intronic 169852274 A T forward           DBSNP:rs7559094      
intronic 169852459 A C forward           DBSNP:rs12476396      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169853531 A G forward           DBSNP:rs4497843      
intronic 169856328 A G reverse           DBSNP:rs2075250      
intronic 169856424 G T reverse           DBSNP:rs2024481      
intronic 169858768 A G forward           DBSNP:rs13022760      
intronic 169858774 A C forward           DBSNP:rs13022769      
intronic 169858775 A T forward           DBSNP:rs12999602      
intronic 169858794 C T forward           DBSNP:rs13023093      
intronic 169859216 A G reverse           DBSNP:rs2193196      
intronic 169859502 C T forward           DBSNP:rs7565788      
intronic 169860367 C T forward           DBSNP:rs13421129      
intronic 169860498 A G forward           DBSNP:rs741378      
intronic 169861535 C T forward           DBSNP:rs10191692      
intronic 169861677 C T forward           DBSNP:rs7421492      
intronic 169861773 A G reverse           DBSNP:rs2892803      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169862577 C T forward           DBSNP:rs9789747      
intronic 169862610 C T forward           DBSNP:rs9287910      
intronic 169862794 A G forward           DBSNP:rs13415505      
intronic 169862801 A T forward           DBSNP:rs9287911      
intronic 169863805 A T forward           DBSNP:rs6744473      
intronic 169864126 G T forward           DBSNP:rs11900233      
intronic 169864542 A C reverse           DBSNP:rs3213759      
intronic 169865101 C T forward           DBSNP:rs10169879      
intronic 169865274 C T forward           DBSNP:rs10204688      
intronic 169865795 C T forward           DBSNP:rs7588584      
intronic 169865834 C T reverse           DBSNP:rs2024480      
intronic 169866327 A G reverse           DBSNP:rs2284679      
intronic 169866806 A G forward           DBSNP:rs6744155      
intronic 169866848 A G forward           DBSNP:rs6715374      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169866901 C T reverse           DBSNP:rs2284676      
intronic 169867100 C G forward           DBSNP:rs4287730      
intronic 169867202 C T forward           DBSNP:rs6747214      
intronic 169868416 C T forward           DBSNP:rs12478774      
intronic 169868964 C T forward           DBSNP:rs17212440      
intronic 169870708 C T forward           DBSNP:rs13424971      
intronic 169871291 C T forward           DBSNP:rs4667595      
intronic 169871419 C T forward           DBSNP:rs12466068      
intronic 169872160 A G forward           DBSNP:rs16856558      
intronic 169872357 C T forward           DBSNP:rs10210408      
intronic 169872529 A G reverse           DBSNP:rs1548936      
intronic 169872727 A G reverse           DBSNP:rs1972589      
intronic 169873333 A G forward           DBSNP:rs7565822      
intronic 169873345 A G forward           DBSNP:rs7592045      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169873442 A C forward           DBSNP:rs7592152      
intronic 169874363 C T forward           DBSNP:rs16856573      
intronic 169874392 A C forward           DBSNP:rs4331469      
intronic 169874436 C T reverse           DBSNP:rs2389589      
intronic 169874772 A T forward           DBSNP:rs3770604      
intronic 169874829 C T forward           DBSNP:rs13388593      
intronic 169875111 C T forward           DBSNP:rs3821125      
intronic 169875979 A G reverse           DBSNP:rs2075248      
intronic 169876281 C T forward           DBSNP:rs11886626      
intronic 169876408 A G reverse           DBSNP:rs2075247      
intronic 169876674 C T reverse           DBSNP:rs10490131      
intronic 169876859 A G forward           DBSNP:rs12105819      
intronic 169877129 C T forward           DBSNP:rs7557964      
intronic 169877566 A C reverse           DBSNP:rs1972588      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169879087 A G reverse           DBSNP:rs2302696      
intronic 169879590 C G forward           DBSNP:rs10169232      
intronic 169879655 A C forward           DBSNP:rs16856592      
intronic 169879687 A G forward           DBSNP:rs16856593      
intronic 169879719 G T forward           DBSNP:rs16856594      
intronic 169879749 A G forward           DBSNP:rs16856596      
intronic 169880762 C T forward           DBSNP:rs16823023      
intronic 169880939 A G forward           DBSNP:rs11898106      
intronic 169881179 C T forward           DBSNP:rs16823028      
intronic 169883229 G T forward           DBSNP:rs11687903      
intronic 169883342 A G forward           DBSNP:rs13401581      
intronic 169884004 A G forward           DBSNP:rs16856600      
intronic 169884118 A C forward           DBSNP:rs13030285      
intronic 169884120 A C forward           DBSNP:rs13030290      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169884359 A G reverse           DBSNP:rs2239600      
intronic 169884466 C T reverse           DBSNP:rs2284675      
intronic 169884697 A G reverse           DBSNP:rs2239599      
intronic 169885044 A G forward           DBSNP:rs6709670      
intronic 169886973 C T forward           DBSNP:rs6725137      
intronic 169887332 A T forward           DBSNP:rs13410285      
intronic 169888223 C T reverse           DBSNP:rs1548935      
intronic 169888225 G T reverse           DBSNP:rs1548934      
intronic 169889290 C T forward           DBSNP:rs13417389      
intronic 169890006 C G reverse           DBSNP:rs2268373      
intronic 169890091 A T reverse           DBSNP:rs2268372      
intronic 169890641 C T forward           DBSNP:rs10200740      
intronic 169890694 A G forward           DBSNP:rs7563506      
intronic 169890763 C T forward           DBSNP:rs10200859      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169892209 A G forward           DBSNP:rs10170902      
intronic 169892484 A C forward           DBSNP:rs4668124      
intronic 169893249 C G reverse           DBSNP:rs4001547      
intronic 169893454 C G forward           DBSNP:rs11689553      
intronic 169894535 A G forward           DBSNP:rs10201691      
intronic 169894718 G T forward           DBSNP:rs13422498      
intronic 169894890 C T forward           DBSNP:rs10201911      
intronic 169895406 C T forward           DBSNP:rs6718884      
intronic 169896046 C G reverse           DBSNP:rs2302695      
intronic 169896578 A T reverse           DBSNP:rs2052298      
intronic 169896673 A G reverse           DBSNP:rs2052297      
intronic 169896774 C T forward           DBSNP:rs10190812      
intronic 169897282 G T reverse           DBSNP:rs2052296      
intronic 169897646 C T forward           DBSNP:rs11897009      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169897782 A T forward           DBSNP:rs11886185      
intronic 169898022 A C forward           DBSNP:rs11886318      
intronic 169898580 C T forward           DBSNP:rs13417486      
intronic 169898594 C T forward           DBSNP:rs13431061      
intronic 169898868 C T forward           DBSNP:rs7600336      
intronic 169899040 A C forward           DBSNP:rs6752222      
intronic 169899080 C G forward           DBSNP:rs16856618      
intronic 169899412 G T reverse           DBSNP:rs2300447      
intronic 169899496 A G reverse           DBSNP:rs2300446      
intronic 169901531 A G reverse           DBSNP:rs2193195      
intronic 169901559 C T reverse           DBSNP:rs2193194      
intronic 169901588 C T reverse           DBSNP:rs2193193      
intronic 169901748 A G reverse           DBSNP:rs2216239      
intronic 169902672 A G reverse           DBSNP:rs3815572      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169903829 A T forward           DBSNP:rs12615478      
intronic 169903875 C T forward           DBSNP:rs16856621      
intronic 169904114 C T forward           DBSNP:rs9283479      
intronic 169904288 A G forward           DBSNP:rs9646731      
intronic 169904310 C T forward           DBSNP:rs7569236      
intronic 169904643 C T forward           DBSNP:rs4606889      
intronic 169904863 C G forward           DBSNP:rs4302191      
intronic 169904981 C T forward           DBSNP:rs6719440      
intronic 169905052 A T forward           DBSNP:rs6747692      
intronic 169905419 G T reverse           DBSNP:rs2268369      
intronic 169905711 A G reverse           DBSNP:rs2268368      
intronic 169905873 G T reverse           DBSNP:rs2268367      
intronic 169906031 A T reverse           DBSNP:rs2268366      
intronic 169906103 C T forward           DBSNP:rs13389381      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169906742 C T forward           DBSNP:rs11902433      
intronic 169907520 C T reverse           DBSNP:rs2075246      
intronic 169907607 G T forward           DBSNP:rs16856638      
intronic 169907720 C T forward           DBSNP:rs16856642      
intronic 169907865 G T forward           DBSNP:rs13393740      
intronic 169908029 C T reverse           DBSNP:rs982810      
intronic 169908280 A C forward           DBSNP:rs13383183      
intronic 169908288 A C forward           DBSNP:rs13383187      
intronic 169909284 A C forward           DBSNP:rs6433109      
intronic 169910047 A G forward           DBSNP:rs11885863      
intronic 169910471 C T reverse           DBSNP:rs3915725      
intronic 169911044 A G reverse           DBSNP:rs2300445      
intronic 169913335 A G forward           DBSNP:rs9711313      
intronic 169913341 A G forward           DBSNP:rs7419248      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169913400 A G forward           DBSNP:rs4668127      
intronic 169913553 A G forward           DBSNP:rs4668128      
intronic 169913984 A G reverse           DBSNP:rs2302693      
intronic 169913986 C T forward           DBSNP:rs13415407      
intronic 169914013 A G reverse           DBSNP:rs2302692      
intronic 169914130 A G reverse           DBSNP:rs3926693      
intronic 169914505 C T forward           DBSNP:rs1816039      
intronic 169914513 A G forward           DBSNP:rs4667597      
intronic 169914577 A G forward           DBSNP:rs3821126      
intronic 169914599 A G forward           DBSNP:rs1362996      
intronic 169914689 A G forward           DBSNP:rs3821127      
intronic 169914737 C T forward           DBSNP:rs3821128      
intronic 169914918 C T forward           DBSNP:rs13008676      
intronic 169914987 C T reverse           DBSNP:rs2239598      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169915174 G T reverse           DBSNP:rs2239597      
intronic 169915331 A G reverse           DBSNP:rs2239596      
intronic 169915358 C T reverse           DBSNP:rs2239595      
intronic 169915838 A G reverse           DBSNP:rs2239594      
intronic 169916145 A T forward           DBSNP:rs6713797      
intronic 169916409 A C forward           DBSNP:rs6752778      
intronic 169916555 G T forward           DBSNP:rs6724600      
intronic 169916813 A G forward           DBSNP:rs13401167      
intronic 169916910 A G forward           DBSNP:rs4668129      
intronic 169917261 A T forward           DBSNP:rs13006149      
intronic 169918162 A T forward           DBSNP:rs12151603      
intronic 169918803 A G forward           DBSNP:rs12987817      
intronic 169919676 A G reverse           DBSNP:rs2268365      
intronic 169920620 C T forward           DBSNP:rs13027887      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169922358 C T reverse           DBSNP:rs2239593      
intronic 169922709 A C forward           DBSNP:rs12615180      
intronic 169924142 A C forward           DBSNP:rs3755164      
intronic 169924618 G T reverse           DBSNP:rs10490130      
intronic 169924798 C T forward           DBSNP:rs831040      
intronic 169924953 G T forward           DBSNP:rs831041      
intronic 169925402 G T reverse           DBSNP:rs2075255      
intronic 169925406 C T reverse           DBSNP:rs2075254      
intronic 169926343 G T forward           DBSNP:rs12613980      
intronic 169928136 G T forward           DBSNP:rs4668130      
intronic 169928581 A G forward           DBSNP:rs12615839      
intronic 169929611 C T forward           DBSNP:rs13027608      
intronic 169929802 A T forward           DBSNP:rs831044      
intronic 169930445 A C forward           DBSNP:rs16823029      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169930800 A G forward           DBSNP:rs831045      
intronic 169930818 A G forward           DBSNP:rs831046      
intronic 169931053 A T forward           DBSNP:rs831047      
intronic 169931168 C T forward           DBSNP:rs831048      
intronic 169937452 C T forward           DBSNP:rs830956      
intronic 169937605 C T forward           DBSNP:rs830957      
intronic 169938541 G T forward           DBSNP:rs830958      
intronic 169938605 C T forward           DBSNP:rs830959      
intronic 169938903 C T forward           DBSNP:rs830960      
intronic 169939848 A C forward           DBSNP:rs7594986      
intronic 169940176 C T forward           DBSNP:rs1421509      
intronic 169941753 A C forward           DBSNP:rs830981      
intronic 169941997 A G forward           DBSNP:rs830982      
intronic 169942037 C G forward           DBSNP:rs13025890      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 169943318 C T forward           DBSNP:rs12988804      
intronic 169943996 A G forward           DBSNP:rs830984      
intronic 169944226 A G forward           DBSNP:rs830985      
intronic 169944337 C G forward           DBSNP:rs7423357      
intronic 169944346 G T forward           DBSNP:rs830986      
intronic 169944361 C T forward           DBSNP:rs830987      
intronic 169944367 C T forward           DBSNP:rs830988      
intronic 169944799 C T forward           <