| 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 |