| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs112762655 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs121908391 |
C>G |
Pathogenic |
5 prime UTR variant, intron variant, coding sequence variant, non coding transcript variant, missense variant |
|
rs373520509 |
G>A,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant |
|
rs386833416 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386833999 |
->ATCT |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386834000 |
->T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386834001 |
G>A,C |
Likely-pathogenic, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
|
rs386834002 |
CT>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386834003 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs386834004 |
A>G |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
|
rs386834006 |
C>A,T |
Likely-pathogenic |
Intron variant, splice acceptor variant |
|
rs386834007 |
AAGTA>- |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
|
rs386834008 |
C>T |
Pathogenic-likely-pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
|
rs386834009 |
C>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs761042752 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs886039445 |
T>C |
Likely-pathogenic |
Splice acceptor variant, synonymous variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs1599230814 |
->GCGAGTAAGTC |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|