SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs2075607 |
G>A,C,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
rs9282859 |
C>G,T |
Likely-benign, benign, pathogenic |
Synonymous variant, stop gained, coding sequence variant |
rs112675807 |
G>A,C,T |
Pathogenic |
Splice acceptor variant |
rs121913315 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs121913316 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs121913317 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Stop gained, coding sequence variant, missense variant |
rs121913319 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs121913320 |
TTTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs121913321 |
CC>-,C,CCC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs121913322 |
C>A,G,T |
Likely-benign, benign-likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs121913323 |
C>G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
rs121913324 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
rs121913325 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs137853075 |
C>A,T |
Likely-benign, pathogenic |
Synonymous variant, coding sequence variant, stop gained |
rs137853076 |
A>G,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
rs137853077 |
T>C |
Pathogenic-likely-pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs137853078 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137853079 |
C>A,G,T |
Likely-benign, pathogenic |
Synonymous variant, coding sequence variant, stop gained |
rs137853080 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
rs137853081 |
G>C,T |
Pathogenic |
Coding sequence variant, missense variant |
rs137853082 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
rs137853083 |
C>G,T |
Likely-benign, pathogenic |
Synonymous variant, coding sequence variant, stop gained |
rs137854584 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs148830698 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs199681533 |
C>A,G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
rs200078204 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs200824447 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs202011521 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign |
Synonymous variant, coding sequence variant |
rs368466538 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, synonymous variant, coding sequence variant |
rs370222210 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs370976710 |
G>A,C,T |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs371264852 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs372329880 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs372511774 |
C>T |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs373167735 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
rs376069854 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs376280361 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs397518440 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397518441 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397518442 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397518443 |
AA>-,A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs398123405 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
rs398123406 |
G>C,T |
Pathogenic |
Splice acceptor variant |
rs532889728 |
G>A |
Benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs552610464 |
G>A |
Conflicting-interpretations-of-pathogenicity |
5 prime UTR variant |
rs553752236 |
G>A |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs556651007 |
G>A,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Synonymous variant, missense variant, coding sequence variant |
rs558040549 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs565993396 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs567202367 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
rs587776656 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs587776657 |
TCGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs587776658 |
G>A |
Pathogenic |
Splice acceptor variant |
rs587776659 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs587776660 |
TCCGGCAGC>- |
Pathogenic |
Inframe indel, coding sequence variant |
rs587776661 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs587778695 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided |
Coding sequence variant, missense variant |
rs587780009 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
rs587780013 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
rs587781537 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
rs587781633 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs587781856 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs587782018 |
G>C,T |
Pathogenic |
Splice donor variant |
rs587782259 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
3 prime UTR variant |
rs587782364 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs587782424 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs727504171 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs727504172 |
A>C,T |
Pathogenic |
Splice acceptor variant |
rs730881958 |
TCATCGGCAAGT>- |
Pathogenic |
Inframe indel, coding sequence variant |
rs730881959 |
GCAGGAGGGCCGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs730881961 |
C>A,T |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
rs730881963 |
G>A,C |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant, missense variant |
rs730881969 |
C>A,T |
Likely-benign, pathogenic |
Synonymous variant, stop gained, coding sequence variant |
rs730881970 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
rs730881972 |
G>C,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs730881973 |
C>A,G |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
rs730881976 |
C>A,G |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant, missense variant |
rs730881979 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs755126393 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
rs755746417 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
rs759090799 |
ATGAA>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Splice acceptor variant, intron variant |
rs759284466 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
5 prime UTR variant |
rs760399253 |
C>G,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
rs764244639 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs764449808 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs767565606 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs768058962 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs774072752 |
G>T |
Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant |
rs774100153 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, synonymous variant |
rs775595174 |
G>A,C,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained |
rs778376925 |
C>A,G,T |
Likely-benign, pathogenic |
Synonymous variant, coding sequence variant, stop gained |
rs786200991 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
rs786201090 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs786201213 |
C>A,T |
Likely-pathogenic, likely-benign, pathogenic |
Synonymous variant, coding sequence variant, stop gained |
rs786201349 |
C>G,T |
Likely-benign, pathogenic |
Synonymous variant, coding sequence variant, stop gained |
rs786202134 |
C>A,G,T |
Likely-pathogenic |
Missense variant, synonymous variant, coding sequence variant |
rs786203624 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs786205864 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs863224448 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs863224669 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
rs864622488 |
G>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, stop gained |
rs864622707 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs876658584 |
A>G |
Pathogenic |
Splice acceptor variant |
rs876661012 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
rs878853247 |
G>C,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs878853984 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
rs878853985 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant |
rs886037859 |
A>G |
Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
rs886037926 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs886039554 |
G>T |
Likely-pathogenic, pathogenic |
Splice donor variant |
rs886041996 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs927999961 |
T>-,TT |
Conflicting-interpretations-of-pathogenicity |
5 prime UTR variant |
rs1057517830 |
G>A |
Pathogenic |
Splice acceptor variant |
rs1057518830 |
CTG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
rs1057519858 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057520017 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057520018 |
T>C |
Likely-pathogenic, likely-benign |
Coding sequence variant, missense variant |
rs1057520038 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057520039 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
rs1057520040 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057520041 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057520042 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057520379 |
C>A,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057520606 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1057524439 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1060499956 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
rs1060499958 |
T>C |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs1060499960 |
ACCGGTGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1060499961 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1060503786 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs1064793427 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1064794805 |
A>C,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs1085307466 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1131690916 |
ATGGGGGACCTG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
rs1131690917 |
GGG>-,G,GGGG |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, frameshift variant, inframe deletion |
rs1131690920 |
G>A |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs1131690921 |
G>T |
Pathogenic |
Splice donor variant |
rs1131690922 |
->ACCT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690923 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1131690924 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690925 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1131690926 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690929 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690930 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690931 |
A>C |
Likely-pathogenic |
Splice acceptor variant |
rs1131690933 |
->GAAGC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690934 |
A>G |
Pathogenic |
Splice acceptor variant |
rs1131690935 |
GGTTCTCCATCCGGCAGA>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
rs1131690936 |
GGTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690938 |
A>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs1131690939 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690940 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1131690941 |
T>C |
Likely-pathogenic |
Splice donor variant |
rs1131690944 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
rs1131690945 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1131690946 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690947 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
rs1131690948 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690949 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690950 |
G>A,C |
Pathogenic |
Splice donor variant |
rs1131690951 |
A>G |
Pathogenic |
Splice donor variant |
rs1131690952 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131690953 |
CCTGCTGGGGGA>- |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, inframe deletion |
rs1407794756 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs1471868090 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs1555734904 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555735001 |
->AC |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555735008 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
rs1555735014 |
C>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1555735080 |
GTAAGTA>- |
Likely-pathogenic |
Intron variant, coding sequence variant, splice donor variant |
rs1555737444 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555737480 |
T>C |
Likely-pathogenic |
Splice donor variant |
rs1555737814 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555737830 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs1555738205 |
C>G,T |
Pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant |
rs1555738219 |
->GGACATCA |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555738319 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs1555738475 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555738656 |
->GA |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555738667 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
rs1555738683 |
T>AC |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555738723 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1555738863 |
CCAAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555738874 |
->TCCATCC |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555738899 |
CA>TCC |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1568689930 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1568689994 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1568690161 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1568690546 |
TAA>- |
Likely-pathogenic |
Intron variant, splice donor variant |
rs1568708275 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs1568708382 |
G>A |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
rs1568709203 |
->TACAAGTT |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1568710381 |
G>A |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
rs1599915131 |
TGCTGGACTCGGAGACGCTGTGCAGGAGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599915235 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599924500 |
TCCTCTCTGTCCCAGGG>- |
Likely-pathogenic |
Intron variant, coding sequence variant, splice acceptor variant |
rs1599925303 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1599926521 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599927564 |
->TGTA |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599927573 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599927589 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599927622 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599927645 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599927689 |
->ACTGTGG |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599928360 |
G>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant |
rs1599929258 |
TGGTTCCGGA>CC |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599929264 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599929328 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599929335 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599929339 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599929369 |
AC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |