| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs61750965 |
C>A,T |
Benign, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs137853206 |
T>C |
Pathogenic |
5 prime UTR variant, initiator codon variant, missense variant, non coding transcript variant |
|
rs267606643 |
T>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, synonymous variant |
|
rs267606645 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant |
|
rs267606646 |
T>A |
Pathogenic |
3 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs267606647 |
C>A,G,T |
Pathogenic, likely-benign |
Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained |
|
rs267606648 |
G>A,C,T |
Uncertain-significance, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, synonymous variant |
|
rs387906581 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant |
|
rs559947967 |
G>A,T |
Likely-pathogenic |
3 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant |
|
rs777503956 |
C>T |
Pathogenic |
Splice donor variant |
|
rs1192619329 |
C>G,T |
Pathogenic |
Intron variant, splice acceptor variant |
|
rs1553150995 |
G>- |
Pathogenic |
3 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1553151177 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1557611080 |
A>- |
Likely-pathogenic |
3 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant |
|