| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs201765587 |
T>A,C |
Uncertain-significance, pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs751381953 |
T>C |
Pathogenic |
Splice acceptor variant, upstream transcript variant, genic upstream transcript variant, intron variant |
|
rs754368658 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs756132866 |
C>A |
Pathogenic |
Splice donor variant, intron variant |
|
rs757910862 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant |
|
rs759131762 |
ACTT>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, non coding transcript variant, splice donor variant, intron variant |
|
rs777090017 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs778324179 |
T>C,G |
Likely-pathogenic |
Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant |
|
rs786200999 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs786201001 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, frameshift variant |
|
rs876661305 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs878853260 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs942538351 |
A>-,AA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, stop gained |
|
rs1064796768 |
T>A |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, intron variant, upstream transcript variant |
|
rs1461036243 |
AT>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
|
rs1555512179 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs1596812454 |
->TGATTTCTAGACTCTAGAAA |
Pathogenic |
Inframe insertion, non coding transcript variant, coding sequence variant, stop gained |
|