SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs137853268 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant |
rs137853269 |
G>A,C |
Pathogenic, likely-pathogenic |
Missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant |
rs140678356 |
C>G,T |
Pathogenic |
Stop gained, missense variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant |
rs144911719 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, non coding transcript variant, coding sequence variant |
rs147859619 |
G>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
rs151306376 |
C>G,T |
Pathogenic |
Stop gained, missense variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant |
rs193922454 |
T>G |
Likely-pathogenic |
Splice donor variant |
rs193922455 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
rs193922458 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained |
rs193922459 |
G>A,C |
Likely-pathogenic, pathogenic |
Splice donor variant, genic upstream transcript variant |
rs193922460 |
->CC |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs202074612 |
C>G,T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, missense variant |
rs202164519 |
A>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs267606945 |
T>C |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant |
rs267606946 |
G>A |
Pathogenic |
Initiator codon variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
rs754449807 |
G>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs770573978 |
C>G,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained, genic upstream transcript variant |
rs770630990 |
G>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained, 5 prime UTR variant, genic upstream transcript variant |
rs771208171 |
T>C,G |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained, synonymous variant, genic upstream transcript variant |
rs866429868 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs886039580 |
TG>- |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, frameshift variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant |
rs886039581 |
T>- |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, frameshift variant, coding sequence variant |
rs886039582 |
A>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs886039583 |
G>A |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
rs886039584 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs886039585 |
G>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs886039661 |
T>A |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
rs886039745 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs886041223 |
G>A,C |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant |
rs886041224 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs886041225 |
G>A |
Pathogenic |
Splice donor variant |
rs886041357 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs886041358 |
A>G |
Pathogenic |
Splice acceptor variant |
rs886041359 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs886041361 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs886041362 |
AG>- |
Pathogenic |
Non coding transcript variant, splice donor variant, coding sequence variant |
rs886041363 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs886041446 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs886041496 |
A>T |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant |
rs886041529 |
G>A |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant |
rs886041569 |
T>-,TT |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, frameshift variant, coding sequence variant |
rs886041588 |
->G |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs886041626 |
G>T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
rs886041680 |
CTTGAATCTAATATTGGCCCTG>- |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, frameshift variant, coding sequence variant |
rs886041681 |
GAGGT>- |
Pathogenic |
Non coding transcript variant, splice donor variant, coding sequence variant, genic upstream transcript variant |
rs886041694 |
T>A,G |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, missense variant, stop gained, coding sequence variant |
rs886041695 |
G>A |
Pathogenic |
Splice acceptor variant |
rs886041839 |
G>A,T |
Pathogenic |
Splice acceptor variant |
rs886041853 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs886042025 |
A>T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, stop gained, coding sequence variant |
rs886042234 |
GAGT>- |
Uncertain-significance, pathogenic-likely-pathogenic |
Intron variant, non coding transcript variant, splice donor variant, coding sequence variant |
rs886043584 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
rs886043680 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
rs915608304 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs919011936 |
G>A,T |
Pathogenic |
Genic upstream transcript variant, intron variant |
rs948246694 |
C>A,T |
Pathogenic |
Stop gained, missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
rs1057517787 |
C>A,T |
Pathogenic |
Synonymous variant, genic upstream transcript variant, coding sequence variant, stop gained, intron variant, non coding transcript variant |
rs1057517788 |
G>A,C |
Likely-pathogenic, pathogenic |
Genic upstream transcript variant, splice donor variant, intron variant |
rs1057517789 |
G>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, non coding transcript variant |
rs1057517790 |
C>T |
Pathogenic |
Missense variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
rs1057517791 |
G>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
rs1057517792 |
->A |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
rs1057517793 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs1057517794 |
G>A |
Pathogenic |
Splice acceptor variant |
rs1057517896 |
T>C |
Pathogenic |
Splice donor variant |
rs1057517904 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs1057518214 |
T>G |
Likely-pathogenic |
Intron variant |
rs1057518348 |
T>A |
Pathogenic |
Genic upstream transcript variant, splice donor variant, intron variant |
rs1057518377 |
T>A |
Pathogenic |
Splice donor variant |
rs1057521143 |
C>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, non coding transcript variant |
rs1057521144 |
G>A |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
rs1064793227 |
G>C |
Pathogenic |
Splice donor variant |
rs1064793461 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1064793526 |
AGGAGTACTGC>- |
Pathogenic |
5 prime UTR variant, frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
rs1064793847 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1064793956 |
TC>- |
Pathogenic |
5 prime UTR variant, frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
rs1064794303 |
C>G,T |
Pathogenic |
5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
rs1064795949 |
TTG>- |
Likely-pathogenic |
5 prime UTR variant, genic upstream transcript variant, coding sequence variant, inframe deletion, non coding transcript variant |
rs1064796303 |
GTATAATGAGGACCCATTCATCTTCTTTGCTCAGTCCTAGATTAG>- |
Pathogenic |
Splice donor variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
rs1064796391 |
TGG>- |
Likely-pathogenic |
Initiator codon variant, genic upstream transcript variant, coding sequence variant, inframe deletion, non coding transcript variant |
rs1064796927 |
A>G |
Pathogenic |
Splice acceptor variant |
rs1064796928 |
G>A,T |
Pathogenic |
Splice donor variant |
rs1064796942 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs1085307522 |
G>C |
Likely-pathogenic |
Intron variant |
rs1085307642 |
T>G |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
rs1085307950 |
T>A |
Likely-pathogenic |
Missense variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
rs1085308012 |
T>C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs1131691731 |
G>T |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
rs1131691812 |
->T |
Pathogenic |
5 prime UTR variant, frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
rs1131691841 |
G>T |
Likely-pathogenic |
Splice donor variant |
rs1131692026 |
A>C |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant |
rs1416252114 |
T>A,C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, synonymous variant |
rs1556010757 |
->T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
rs1556012055 |
C>G |
Pathogenic |
Intron variant, genic upstream transcript variant |
rs1556012094 |
G>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, splice donor variant |
rs1556012100 |
G>A,T |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
rs1556014263 |
G>T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant |
rs1556014287 |
T>C |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant |
rs1556020460 |
T>A |
Pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
rs1556020474 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
rs1556020485 |
T>C |
Pathogenic |
Intron variant, genic upstream transcript variant |
rs1556020752 |
T>C |
Pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
rs1556020770 |
G>A |
Pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
rs1556020798 |
GAGA>- |
Pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
rs1556020818 |
A>G |
Pathogenic-likely-pathogenic |
Intron variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant |
rs1556020845 |
G>A |
Pathogenic |
Intron variant, genic upstream transcript variant, splice donor variant |
rs1556023495 |
C>A |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
rs1556023503 |
A>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant |
rs1556023505 |
T>C |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
rs1556023528 |
G>A,C |
Pathogenic |
Intron variant, genic upstream transcript variant |
rs1556024541 |
G>T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant |
rs1556025314 |
G>T |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
rs1556025936 |
CAG>TCA |
Pathogenic |
Intron variant, genic upstream transcript variant, splice acceptor variant |
rs1556025968 |
AAG>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, inframe deletion, coding sequence variant |
rs1556025994 |
C>-,CC |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
rs1556026027 |
T>A |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
rs1556026033 |
A>G |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
rs1556026042 |
A>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
rs1556029499 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
rs1556029516 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1556029519 |
CA>AT |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1556030465 |
T>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1556030487 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1556030502 |
G>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs1556036014 |
G>C |
Pathogenic |
Splice acceptor variant |
rs1556070724 |
A>G |
Pathogenic |
Splice acceptor variant |
rs1556070890 |
A>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1556071086 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1556071123 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1556071138 |
->C |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1556091855 |
G>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1556091873 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1569364701 |
AG>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
rs1569369653 |
G>A |
Pathogenic |
Coding sequence variant, upstream transcript variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, non coding transcript variant |
rs1569391212 |
C>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
rs1602240890 |
->GC |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
rs1602240926 |
GC>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
rs1602241023 |
G>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
rs1602244774 |
AA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant |
rs1602244810 |
G>C |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, missense variant |
rs1602244836 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant |
rs1602251992 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant |
rs1602273769 |
ATCA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
rs1602273900 |
C>T |
Likely-pathogenic |
Coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant, missense variant |
rs1602273945 |
G>T |
Likely-pathogenic |
Genic upstream transcript variant, intron variant |
rs1602274746 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
rs1602274883 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, stop gained, genic upstream transcript variant, non coding transcript variant |
rs1602274893 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
rs1602274929 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
rs1602274950 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
rs1602288211 |
GGT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, splice donor variant, non coding transcript variant |
rs1602290398 |
G>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
rs1602292528 |
G>T |
Pathogenic |
Genic upstream transcript variant, splice acceptor variant |
rs1602303865 |
T>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
rs1602304005 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs1602307030 |
->GG |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1602307078 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs1602307094 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1602307107 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs1602324484 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1602324630 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs1602363343 |
->TCA |
Pathogenic |
Coding sequence variant, inframe indel, non coding transcript variant |
rs1602363550 |
G>A |
Likely-pathogenic |
Intron variant |
|