| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs587777317 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587777318 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs757903212 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs774054468 |
A>-,AA |
Uncertain-significance, not-provided, pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs869025588 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs869025589 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs869025590 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869025591 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs869025592 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886041595 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1010165716 |
C>A,G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057518114 |
CTT>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs1057518174 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1057519007 |
CC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057522024 |
A>G |
Likely-pathogenic |
Intron variant |
|
rs1057524248 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1064794035 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064795335 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064795608 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064796854 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307914 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555917927 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555919860 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555921455 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555922391 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1555924860 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555930128 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555932766 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555933732 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1555933937 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555933969 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555933972 |
->TC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1601957478 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |