| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs5219 |
T>A,C,G |
Likely-benign, benign, risk-factor, drug-response, benign-likely-benign |
Intron variant, missense variant, 5 prime UTR variant, stop gained, coding sequence variant |
| rs28936678 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs74162102 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs74339576 |
C>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs80356610 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs80356611 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs80356613 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs80356615 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs80356616 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs80356617 |
A>C |
Pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs80356618 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
| rs80356620 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs80356621 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs80356622 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs80356624 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
| rs80356625 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs104894236 |
G>A,T |
Pathogenic, likely-benign |
5 prime UTR variant, coding sequence variant, intron variant, synonymous variant, stop gained |
| rs104894237 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs104894248 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs116392938 |
G>A |
Benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs193922565 |
A>G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs193929333 |
A>C,G |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs193929337 |
T>C |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs193929348 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs193929352 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs193929353 |
T>C,G |
Pathogenic |
Coding sequence variant, missense variant |
| rs193929355 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs193929356 |
T>A,C |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs193929357 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs193929358 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs267607196 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs375848765 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs377091338 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs387906398 |
C>A |
Pathogenic |
5 prime UTR variant, intron variant |
| rs387906783 |
A>G,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs529946415 |
A>G |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, intron variant |
| rs539975714 |
C>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
5 prime UTR variant, intron variant |
| rs547932593 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant, 5 prime UTR variant |
| rs587783669 |
G>C,T |
Likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs587783670 |
G>C,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs587783671 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs587783672 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs587783673 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs587783674 |
G>C |
Pathogenic |
Coding sequence variant, missense variant, intron variant |
| rs587783675 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs750414160 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs752507753 |
G>A |
Uncertain-significance, likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
| rs766891274 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs780957825 |
G>A,C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
| rs797045637 |
C>A,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs879253757 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant, intron variant |
| rs954727530 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs1057518775 |
G>A,C |
Uncertain-significance, likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
| rs1337406718 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1371185696 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1404429785 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs1554901596 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554901690 |
->GATGATC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554901718 |
->T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554901775 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554901822 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554901829 |
AAGG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554901854 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1564865232 |
G>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
| rs1564865302 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1591695840 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |