| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs34878385 |
C>-,CC |
Likely-pathogenic |
Intron variant, frameshift variant, coding sequence variant |
|
rs149830411 |
G>A |
Uncertain-significance, pathogenic |
Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs186818985 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign |
Intron variant, genic downstream transcript variant |
|
rs281865468 |
G>A |
Pathogenic |
Stop gained, upstream transcript variant, genic upstream transcript variant, coding sequence variant |
|
rs281865469 |
G>A,C |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs281865470 |
C>T |
Pathogenic |
Splice donor variant |
|
rs281865471 |
TC>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs281865472 |
GGAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs371321182 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs551541795 |
AG>- |
Pathogenic |
Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs748018297 |
C>-,CC |
Pathogenic, uncertain-significance |
Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant |
|
rs768152581 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs796052595 |
C>T |
Pathogenic |
Splice donor variant |
|
rs796052596 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant |
|
rs796052603 |
G>A |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained |
|
rs797045049 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs886039733 |
A>- |
Pathogenic |
Coding sequence variant, intron variant, stop gained |
|
rs1057518010 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057518182 |
CAAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057518659 |
TTGCTCAAAGT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant |
|
rs1057520050 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1064793433 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064794038 |
->TC |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant |
|
rs1064796289 |
TGCCCCATCACCTGCTGCCCC>- |
Pathogenic |
Coding sequence variant, intron variant, splice donor variant, genic downstream transcript variant |
|
rs1064796433 |
GTGGGTTGAGCAA>CAT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs1304078301 |
C>-,CCCC,CCCCC |
Pathogenic |
Inframe insertion, coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant |
|
rs1374665357 |
G>-,GG |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1427624649 |
G>A,C |
Pathogenic |
Stop gained, missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1555574888 |
G>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs1555575197 |
C>A |
Pathogenic |
Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1555575405 |
T>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1555575489 |
G>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1555575816 |
C>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1555734136 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555753569 |
->G |
Likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1567761585 |
T>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1567764119 |
G>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1568366050 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1597871799 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant |
|
rs1597872089 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant |
|
rs1597874008 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant |
|
rs1598441446 |
CC>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |