| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs7190978 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs121918532 |
C>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs137853902 |
C>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs189234741 |
C>G,T |
Likely-pathogenic, pathogenic |
Genic upstream transcript variant, splice acceptor variant |
|
rs200963831 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs201162411 |
T>A |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs201553871 |
G>C |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs372504780 |
G>A |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
|
rs527236060 |
C>G,T |
Likely-pathogenic |
Intron variant, genic upstream transcript variant |
|
rs527236061 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs747258045 |
G>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs749199721 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, intron variant |
|
rs750620302 |
G>A,T |
Likely-pathogenic |
Stop gained, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs753353134 |
C>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs754786301 |
G>A,C |
Pathogenic |
Stop gained, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs756806434 |
->CACC |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs760373259 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs760430056 |
C>-,CC |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs770011113 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs775887058 |
->A |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs778884136 |
CTCA>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, splice donor variant |
|
rs797044693 |
->G |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs878853394 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant |
|
rs888090139 |
C>G,T |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1028371920 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1064794342 |
TCGT>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1064794573 |
G>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1231250334 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1286857064 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1352458826 |
G>A |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1365926616 |
ACCACGTTGGCCGTGCGCC>-,ACCACGTTGGCCGTGCGCCACCACGTTGGCCGTGCGCC |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1420628245 |
C>T |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1555488069 |
C>A |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555488573 |
G>T |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555493707 |
A>T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1567360969 |
C>T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1596974169 |
C>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1596976316 |
C>T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1596996962 |
C>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs1596997875 |
T>A,G |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |