| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs80356489 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs80356490 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs80356491 |
AG>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs121908975 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs121908976 |
C>T |
Likely-pathogenic, uncertain-significance, pathogenic |
Coding sequence variant, stop gained |
|
rs121908977 |
CAC>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs121908978 |
C>T |
Not-provided, pathogenic-likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs121908979 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs121908980 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs148971334 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs186476316 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs193302881 |
C>G,T |
Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs193302882 |
G>A |
Pathogenic, not-provided |
Coding sequence variant, intron variant, missense variant |
|
rs193302883 |
C>T |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs193302887 |
A>G |
Likely-pathogenic, not-provided |
Coding sequence variant, intron variant, missense variant |
|
rs193302888 |
G>A |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs193302889 |
A>T |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, intron variant, missense variant |
|
rs193302900 |
A>T |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs193302903 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs200703321 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs201036248 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs201967384 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs202209699 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs374848317 |
G>A,T |
Pathogenic |
5 prime UTR variant, missense variant, stop gained, coding sequence variant |
|
rs551439289 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs561701030 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs769726248 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs781784543 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
|
rs781869215 |
->AC |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs782172072 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs782202675 |
C>G,T |
Likely-pathogenic |
Splice acceptor variant |
|
rs782501672 |
CCGACTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs782604758 |
->C,CC |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs782630676 |
C>A,G |
Pathogenic |
Splice donor variant |
|
rs782645078 |
A>C |
Likely-pathogenic |
Splice donor variant |
|
rs786204477 |
->CCAGCCATCATG |
Likely-pathogenic |
Inframe insertion, coding sequence variant |
|
rs786204637 |
C>A,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs786204740 |
T>C |
Likely-pathogenic |
Missense variant, initiator codon variant, intron variant |
|
rs920196110 |
T>C,G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1064795433 |
A>- |
Likely-pathogenic |
Intron variant, coding sequence variant, frameshift variant |
|
rs1182102272 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1444468055 |
G>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant |
|
rs1447366650 |
GTAA>- |
Pathogenic-likely-pathogenic |
Intron variant, frameshift variant, coding sequence variant |
|
rs1449998297 |
A>G,T |
Likely-pathogenic |
Splice donor variant, intron variant |
|
rs1459811938 |
->A |
Likely-pathogenic |
Splice donor variant |
|
rs1474282972 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555190559 |
AGAGCTG>- |
Likely-pathogenic |
Coding sequence variant, splice acceptor variant, intron variant |
|
rs1555190745 |
->GC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555190956 |
GTAG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555190969 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555190992 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555191105 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555191211 |
->A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1555191406 |
C>- |
Likely-pathogenic |
Splice acceptor variant |
|
rs1555191512 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555191573 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555191580 |
->AGCCAACCAGG |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555191595 |
AA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1592109970 |
CT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592111112 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592111172 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592111559 |
A>C |
Likely-pathogenic |
Splice donor variant |