| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs769691894 |
TGGAGCCTTCGGTTGTGACTGTCC>- |
Likely-pathogenic |
Inframe deletion, intron variant, coding sequence variant, non coding transcript variant |
|
rs886039773 |
TTAG>- |
Pathogenic, likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
|
rs886039774 |
GA>- |
Pathogenic, pathogenic-likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
|
rs886039775 |
->CC |
Pathogenic-likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
|
rs886039776 |
A>- |
Pathogenic, pathogenic-likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
|
rs886039778 |
->A |
Pathogenic, likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
|
rs886039779 |
C>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1033229812 |
C>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, intron variant, stop gained, non coding transcript variant |
|
rs1064796472 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, intron variant, stop gained, non coding transcript variant |
|
rs1114167303 |
GGTAT>- |
Likely-pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, frameshift variant |
|
rs1131691911 |
TAGTT>- |
Pathogenic |
Coding sequence variant, intron variant, stop gained, non coding transcript variant |
|
rs1275312464 |
C>G,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
|
rs1382415023 |
GAAA>- |
Likely-pathogenic, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
|
rs1555898531 |
A>- |
Pathogenic, likely-pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1555898622 |
CTCTCAAA>- |
Pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1555898806 |
C>A |
Pathogenic |
Intron variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1555898930 |
G>- |
Pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1555899177 |
ACTC>- |
Pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1555899242 |
G>T |
Likely-pathogenic |
Intron variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1555899379 |
CTG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, inframe indel, stop gained, intron variant |
|
rs1555899560 |
C>T |
Pathogenic |
Intron variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1569055781 |
->GC |
Likely-pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1569056484 |
C>- |
Likely-pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1569057333 |
->G |
Likely-pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1569058041 |
GATTTACCATCTAAT>- |
Likely-pathogenic |
Intron variant, non coding transcript variant, inframe deletion, coding sequence variant |
|
rs1569058837 |
C>T |
Pathogenic |
Intron variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1569059792 |
C>- |
Pathogenic, likely-pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1601263223 |
->A |
Pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1601265607 |
G>- |
Pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1601268503 |
CT>- |
Pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1601268952 |
CA>- |
Likely-pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1601269392 |
C>- |
Pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1601273823 |
GTCTCAT>- |
Pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1601274465 |
->AA |
Pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1601275471 |
T>- |
Pathogenic |
Intron variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1601280271 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|