| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs138944476 |
C>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, missense variant |
|
rs139494583 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, missense variant |
|
rs201870299 |
G>A,T |
Pathogenic |
Stop gained, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs374290942 |
G>A,C |
Pathogenic |
Stop gained, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs750315709 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs759900272 |
G>A,T |
Pathogenic |
Synonymous variant, 5 prime UTR variant, coding sequence variant, stop gained |
|
rs786200952 |
->T |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs786200959 |
GA>- |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs786200960 |
G>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs786200961 |
G>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs886041480 |
CACTGGCATT>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs886041731 |
->T |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs886041809 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886041825 |
A>C |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs886042000 |
G>A |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1057516049 |
CACT>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1057518543 |
->C |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1057524195 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1057524340 |
G>C |
Likely-pathogenic |
Genic downstream transcript variant, intron variant |
|
rs1064793721 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant |
|
rs1064793955 |
T>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1064794000 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1064795648 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1131691516 |
T>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1131691878 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs1351334408 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1395351821 |
G>A,C |
Pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant, missense variant |
|
rs1554679415 |
AGGTGGCTGA>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1554679654 |
G>A |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1554679726 |
TA>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1554679835 |
->T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1554679889 |
CTTTT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1554680113 |
G>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1554680115 |
A>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1554680188 |
C>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1554680245 |
T>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1554680267 |
G>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1554680316 |
->CTAT |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, intron variant, splice acceptor variant |
|
rs1554680840 |
C>A |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1554680902 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1554681382 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1554681385 |
C>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, splice donor variant |
|
rs1554688473 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs1554688570 |
->ACCCC |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs1554688879 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs1554702654 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs1564005155 |
A>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1564013046 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1564034820 |
G>A,C |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant, stop gained |
|
rs1564038389 |
C>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, splice donor variant |
|
rs1564038539 |
G>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
|
rs1564039543 |
G>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
|
rs1587705905 |
AA>TACGGCCAGC |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1587706119 |
A>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1587708558 |
CT>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1587708739 |
->GCTCA |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1587709269 |
C>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1587713866 |
->GA |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1587713892 |
C>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1587723169 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1587727050 |
TGGT>- |
Pathogenic |
Intron variant, splice acceptor variant |
|
rs1587767856 |
->CTTG |
Pathogenic |
Coding sequence variant, frameshift variant |