| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs140874089 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs145594158 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs148677674 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs149850248 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs150419186 |
C>A,G,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained, missense variant |
|
rs189150283 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs587777176 |
G>A |
Pathogenic |
Intron variant |
|
rs587777177 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs587777178 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs587777179 |
CGCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587777180 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs587777613 |
G>-,GG |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs752547717 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs753474547 |
TGAAGTGC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs755783378 |
GTC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs761685529 |
C>T |
Uncertain-significance, pathogenic |
Intron variant |
|
rs762834512 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs767191322 |
G>A,C,T |
Likely-pathogenic |
Splice donor variant |
|
rs770933647 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs771885420 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs777243508 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs780267761 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs781251567 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs781431741 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs797045165 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797045166 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs869320686 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs886041542 |
G>A,T |
Likely-pathogenic |
Splice donor variant |
|
rs886041925 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1034395178 |
C>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
|
rs1057518336 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057524046 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1131691862 |
->CCGCCAG |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1158550690 |
A>C,G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1185411712 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1194536394 |
AG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1223430276 |
G>A |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1249726034 |
C>A,G |
Pathogenic |
Intron variant |
|
rs1302923931 |
G>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1419091884 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1458682620 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1459786357 |
T>A,C |
Pathogenic |
5 prime UTR variant |
|
rs1460026299 |
AC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1469540056 |
G>C,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555927321 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555927544 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555927561 |
G>C |
Likely-pathogenic |
Splice donor variant |
|
rs1555927611 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555927613 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555927827 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555928249 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569153870 |
G>- |
Pathogenic |
Coding sequence variant, splice donor variant |
|
rs1569154492 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1569154722 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1601717797 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1601718760 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1601722136 |
->TC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1601723893 |
AA>TTGG |
Likely-pathogenic |
Coding sequence variant, frameshift variant |