| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs192861143 |
C>T |
Likely-pathogenic, benign |
Intron variant |
|
rs201494527 |
C>- |
Likely-pathogenic |
Intron variant |
|
rs760978794 |
C>A,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained |
|
rs761229686 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, missense variant |
|
rs780493577 |
A>C,G |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant, intron variant |
|
rs786205638 |
TTAAAAGATACTTGAGCTGGGACACTCCTCAAGAAGTCATTGCAGTTA>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, intron variant, splice acceptor variant, non coding transcript variant |
|
rs797045038 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
|
rs863224865 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
|
rs879253799 |
A>-,AA |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
|
rs1314048356 |
G>A,T |
Pathogenic |
Genic downstream transcript variant, intron variant |
|
rs1470826074 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained |
|
rs1559264135 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained |
|
rs1559289651 |
T>G |
Pathogenic |
Genic downstream transcript variant, intron variant, 3 prime UTR variant |
|