| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs199801224 |
C>A,T |
Pathogenic |
Stop gained, 5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant |
|
rs367912276 |
C>G |
Likely-pathogenic |
Intron variant |
|
rs372949028 |
G>A,C |
Pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, splice donor variant |
|
rs752298579 |
G>A |
Pathogenic |
Intron variant, missense variant, coding sequence variant, non coding transcript variant |
|
rs764883927 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, stop gained |
|
rs869320693 |
T>- |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs896249235 |
G>A,C |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs1057520382 |
G>A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant |
|
rs1162037663 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, missense variant |
|
rs1328647913 |
T>C |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant |
|
rs1601975780 |
CT>- |
Pathogenic |
5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant |
|
rs1602255030 |
G>A |
Likely-pathogenic |
Intron variant, splice donor variant |
|