| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs61731477 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
| rs72768728 |
C>G |
Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
| rs141399869 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs188739853 |
G>A,C |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, synonymous variant |
| rs199700840 |
G>A,C |
Uncertain-significance, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs200324356 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
| rs201257588 |
C>G,T |
Pathogenic |
Non coding transcript variant, stop gained, missense variant, coding sequence variant |
| rs201649140 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
| rs202162520 |
C>A,T |
Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
| rs267607103 |
G>A,C |
Uncertain-significance, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs267607104 |
T>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs267607105 |
C>T |
Uncertain-significance, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs370244846 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, synonymous variant |
| rs370427146 |
C>G |
Benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, synonymous variant |
| rs370869383 |
C>T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, synonymous variant |
| rs371213803 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs376712059 |
G>A,C,T |
Likely-pathogenic, uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, missense variant |
| rs377697825 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Non coding transcript variant, synonymous variant, coding sequence variant |
| rs397514713 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397514714 |
C>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs398122941 |
GT>- |
Pathogenic |
Splice acceptor variant, coding sequence variant, non coding transcript variant, intron variant |
| rs398122965 |
C>T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs398122966 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs398122967 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs398122968 |
G>A |
Pathogenic |
Intron variant |
| rs483352866 |
C>G,T |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs545689324 |
G>A,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs564477999 |
C>T |
Uncertain-significance, pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs587777147 |
G>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs745800110 |
C>A |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs747538224 |
C>G |
Uncertain-significance, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs747821285 |
G>A |
Uncertain-significance, likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs748302886 |
C>T |
Uncertain-significance, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs748759187 |
C>G,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs749163517 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, non coding transcript variant, coding sequence variant |
| rs756181906 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs760474458 |
G>A,C,T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs761918906 |
ATCGTGGGCAAG>- |
Uncertain-significance, pathogenic, likely-pathogenic |
Inframe deletion, coding sequence variant, non coding transcript variant |
| rs763626059 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
| rs765965968 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs770107050 |
C>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, missense variant |
| rs770820144 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs780054979 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, 3 prime UTR variant |
| rs796053400 |
C>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs796053403 |
C>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs796053407 |
GTCTTCCTGG>CTT |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs797044547 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs797044548 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs797044549 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs863223337 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs863224931 |
G>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs863224932 |
T>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs878853232 |
G>A,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs878854271 |
C>A,T |
Likely-pathogenic, likely-benign |
Synonymous variant, non coding transcript variant, stop gained, coding sequence variant |
| rs1057519629 |
C>G,T |
Uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1057519630 |
C>T |
Uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1057524191 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1057524192 |
T>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1131691552 |
A>C |
Pathogenic |
Splice acceptor variant |
| rs1131691737 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1159971280 |
C>G,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1292551263 |
->AAGC |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555501140 |
C>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1555501320 |
A>C |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1567411053 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1567411469 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1567412736 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs1567413218 |
C>G |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1596969013 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs1596969717 |
T>C |
Likely-pathogenic |
Intron variant, splice donor variant |
| rs1596972653 |
GC>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1596973014 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |