| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121908821 |
C>A,G |
Likely-pathogenic, pathogenic, risk-factor |
Splice acceptor variant |
|
rs121908822 |
TCTG>- |
Likely-pathogenic, pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
|
rs121908823 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs121908824 |
G>A,C,T |
Likely-pathogenic, uncertain-significance, likely-benign |
Synonymous variant, 5 prime UTR variant, coding sequence variant, missense variant |
|
rs121908825 |
C>A |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs121908826 |
T>C,G |
Likely-pathogenic, pathogenic, risk-factor |
Splice acceptor variant |
|
rs121908827 |
A>G |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs121908828 |
C>A,T |
Likely-pathogenic, uncertain-significance |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs121908829 |
C>T |
Likely-pathogenic |
5 prime UTR variant, stop gained, coding sequence variant |
|
rs121908830 |
G>A |
Likely-pathogenic, pathogenic, risk-factor |
5 prime UTR variant, stop gained, coding sequence variant |
|
rs121908831 |
->TCTGAGAGCAGCTC |
Likely-pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
|
rs587781773 |
A>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs727503490 |
C>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs780133289 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs886039439 |
A>T |
Likely-pathogenic, pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
|
rs1215337884 |
G>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1553436874 |
->A |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
|
rs1553437028 |
C>- |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
|
rs1558752379 |
G>- |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
|
rs1558752468 |
G>- |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
|