SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28934602 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs119103227 |
A>C,G |
Uncertain-significance, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs119103228 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
rs119103229 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, missense variant |
rs119103230 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
rs119103231 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, missense variant |
rs144572349 |
A>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
rs146448211 |
G>A,C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, missense variant, downstream transcript variant |
rs148324626 |
C>A,G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
rs148981273 |
C>T |
Likely-pathogenic |
Intron variant, missense variant, non coding transcript variant, coding sequence variant |
rs149291867 |
C>T |
Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
rs750728042 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs752737867 |
T>G |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant |
rs753887925 |
C>T |
Pathogenic-likely-pathogenic |
Intron variant, genic downstream transcript variant |
rs766163167 |
->T |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant |
rs767533946 |
->A |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant |
rs769499327 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs771944310 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs772791252 |
G>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant |
rs773102942 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs773398782 |
C>T |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, intron variant, missense variant, coding sequence variant |
rs794727957 |
G>A |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, intron variant, stop gained, coding sequence variant |
rs796051978 |
A>- |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant, downstream transcript variant |
rs878852989 |
G>A |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant |
rs1057516035 |
C>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs1064796014 |
AGAAGGTTCAGGCTTCG>CCTTAATCTCAGGCTTAATCTCAAGCAA |
Likely-pathogenic |
Coding sequence variant, stop gained, inframe indel, 5 prime UTR variant, non coding transcript variant |
rs1175936807 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant, splice donor variant |
rs1284747916 |
CT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
rs1393866282 |
G>A |
Pathogenic-likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs1466111134 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
rs1555882068 |
->G |
Likely-pathogenic |
Downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
rs1555930523 |
AG>- |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs1555951858 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1555955827 |
->C |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs1569218416 |
C>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs1601779091 |
A>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs1601803431 |
->T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |