| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs864321634 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs864321689 |
AGAG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs864321690 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs864321691 |
->GG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs864321692 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs864321693 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs886041564 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs886041614 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs886041640 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs886041891 |
->G |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
|
rs963822803 |
C>G,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained |
|
rs1057518215 |
G>A,T |
Pathogenic |
Splice donor variant |
|
rs1057518233 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1057524482 |
C>G |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1064794867 |
A>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, intron variant, coding sequence variant |
|
rs1064796758 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1085307480 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1135401769 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs1554776446 |
CA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1554776447 |
->AA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1554776457 |
TT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1554787096 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs1554791124 |
G>A |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs1554791943 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1554791965 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1554791975 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1554792658 |
TT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1564421528 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1564422380 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1589115392 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1589196229 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1589196234 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1589219377 |
ACAA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs1589237447 |
TGAA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1589247025 |
GTCACAGT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |