| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs146474985 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, missense variant |
|
rs199800166 |
C>T |
Likely-pathogenic, likely-benign, uncertain-significance |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs201589586 |
G>A,C,T |
Likely-pathogenic, likely-benign, uncertain-significance |
Genic downstream transcript variant, stop gained, missense variant, coding sequence variant |
|
rs746852311 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs747922528 |
G>A,C,T |
Pathogenic |
Stop gained, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs749201074 |
G>A,C |
Likely-benign, likely-pathogenic, pathogenic |
Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs749607205 |
G>A,C |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs749632782 |
G>A,C |
Pathogenic |
Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs761636251 |
G>A,T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant |
|
rs761848111 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs763207005 |
T>A,C,G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, stop gained |
|
rs763407068 |
G>A,C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, stop gained |
|
rs772229371 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant |
|
rs772267579 |
TTTT>-,TTT,TTTTT |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs779463117 |
C>A,G,T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, missense variant |
|
rs780011005 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, missense variant |
|
rs797044890 |
C>T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs797044900 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant |
|
rs797045027 |
CTTT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs863223319 |
C>G,T |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs863223320 |
A>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs863223321 |
TG>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs863225257 |
AC>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs863225296 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs869312713 |
C>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs878855327 |
G>-,GG |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs879253753 |
->T |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886039477 |
TT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886039713 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs886039734 |
TTGT>- |
Pathogenic, pathogenic-likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886039902 |
TTTTT>-,T,TTTT |
Pathogenic, likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886041125 |
GTTTT>- |
Pathogenic, likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886041486 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886041521 |
->T |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886041539 |
CCTGTCCTTCTT>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs886041574 |
G>C |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs886041724 |
->T |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886041760 |
C>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs886041791 |
G>A,T |
Pathogenic, likely-pathogenic |
Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs886041822 |
->G |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886041829 |
CTCT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886041889 |
G>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs886041942 |
G>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886041976 |
T>C |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs886042016 |
T>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs886042019 |
G>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs886042029 |
CTTT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs900492387 |
G>A,T |
Pathogenic |
Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs929007085 |
G>A,C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1057518578 |
TT>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1057518663 |
G>C,T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1057518987 |
G>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1057519399 |
A>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1057520565 |
G>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1064793539 |
G>T |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1064793599 |
C>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1064794330 |
CTTT>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1064794992 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs1064795497 |
G>A,C |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs1064797012 |
C>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1064797050 |
G>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1085307544 |
->T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1114167291 |
C>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1131691512 |
A>C |
Likely-pathogenic |
Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant |
|
rs1135401804 |
C>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1135401815 |
->T |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1156815415 |
G>A,C |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, missense variant |
|
rs1163944246 |
->G |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1221781038 |
G>A,T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, missense variant |
|
rs1250598768 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1283976400 |
T>C,G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1364690005 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1381957912 |
C>A,T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, missense variant |
|
rs1555521779 |
GCGGTCATACTTGTCAT>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555521799 |
G>T |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs1555523580 |
T>C |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1555524861 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555524870 |
C>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555525088 |
->G |
Pathogenic-likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555525115 |
GGCTTCGG>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555525296 |
CA>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555525476 |
GGCA>TCT |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555525517 |
CT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555525603 |
G>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555525685 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555525792 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555525917 |
G>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555525977 |
GA>TT |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555526086 |
G>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555526796 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555527341 |
T>- |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555527497 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555527511 |
C>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555527929 |
T>A |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555528040 |
G>C |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555528354 |
GTTT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555528356 |
G>A |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555528357 |
ATTT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555528400 |
TT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555528558 |
->T |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555528717 |
G>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555528719 |
G>- |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555529052 |
T>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555529181 |
GAGT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555529297 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555529364 |
AA>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555529551 |
G>C |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555529572 |
GTGCTGGT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555529645 |
CT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555529726 |
T>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555529734 |
CT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555529864 |
GTTTC>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555529979 |
C>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555530173 |
C>A |
Pathogenic |
Downstream transcript variant, stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555531314 |
->CT |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1555531390 |
ACGCTCGTTTCTCT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1567543920 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1567566026 |
G>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1567571990 |
CTTT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1567572265 |
CT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1567573538 |
GGCAAGT>CAGGACGGA |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1567574466 |
A>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1567578243 |
G>C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1567579092 |
TT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1567579525 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1567583835 |
C>G |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1567592494 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1567614448 |
->T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs1597389370 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant |
|
rs1597432871 |
->G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597433156 |
->G |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597435393 |
CA>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597435896 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1597436476 |
CT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597440638 |
G>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597441359 |
CAGAGCGTACGGGGC>GG |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597441860 |
CTCCGAGGCGC>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597443966 |
->G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597444731 |
->T |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597445368 |
GGAGT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597447943 |
->C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597449183 |
->TA |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597451815 |
CT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597452422 |
A>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597453026 |
->T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597454239 |
->GTCT |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597454691 |
CTCTTTGTGTTTGCTTT>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597455532 |
->G |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597455752 |
->T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597459077 |
TCTC>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597459152 |
T>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597459649 |
C>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1597459998 |
->GCTC |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597460246 |
A>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597460545 |
->A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1597461100 |
A>C |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1597461334 |
CA>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597462279 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1597463562 |
G>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597464360 |
CT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597464953 |
TTTC>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597465118 |
->T |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597465419 |
AG>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1597477691 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |