| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs148541545 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs200180113 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs374343844 |
T>A,C |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs387906416 |
TAGAAGA>CTTCTAG |
Pathogenic |
Inframe indel, coding sequence variant, stop gained, non coding transcript variant |
|
rs573510559 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs587777171 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs587777172 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs754049402 |
C>T |
Uncertain-significance, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs863223326 |
ACCA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs869312905 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs886037616 |
ATAAAA>- |
Pathogenic |
Intron variant |
|
rs886037655 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1057516045 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs1131691304 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1236962991 |
C>T |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs1558655670 |
ATG>TTTCTCATCA |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|