| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs111584802 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs139591993 |
A>C,T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs148960463 |
G>A |
Pathogenic |
5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, intron variant |
|
rs749804502 |
G>A,T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs770984846 |
G>A |
Pathogenic |
Synonymous variant, coding sequence variant, non coding transcript variant |
|
rs781194178 |
G>A,T |
Pathogenic |
Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, synonymous variant |
|
rs786205688 |
T>C |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant |
|
rs863225454 |
C>T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant |
|
rs863225455 |
C>T |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant |
|
rs863225456 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant |
|
rs863225457 |
G>A |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant |
|
rs1304454699 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1554059550 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant |
|
rs1554059573 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant |
|
rs1554062741 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554062789 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554062804 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant |
|
rs1554063600 |
A>G |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs1554063656 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
|
rs1554064175 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554064740 |
T>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant |
|