| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs61753893 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs142864437 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant |
|
rs144215747 |
C>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs144567652 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, intron variant |
|
rs146897650 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant, missense variant |
|
rs147021911 |
C>T |
Pathogenic, likely-pathogenic, risk-factor |
Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant |
|
rs200173413 |
A>C,G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant |
|
rs762570903 |
CTCT>-,CT,CTCTCT |
Pathogenic |
Genic downstream transcript variant, stop gained, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs768006618 |
AAAA>-,AAAAA |
Likely-pathogenic, uncertain-significance |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs797045116 |
->A |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant |
|
rs1375421660 |
AT>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs1555361990 |
G>- |
Likely-pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1555363275 |
CAGAGAAGCCTTC>- |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1555365959 |
A>G |
Pathogenic |
Genic downstream transcript variant, intron variant |
|
rs1566761441 |
G>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1566764032 |
G>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1566766719 |
->G |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1566775496 |
C>G |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1594810654 |
TTTT>CAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant, inframe indel, non coding transcript variant |
|