| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs587777325 |
A>G,T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587777326 |
CA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs587777328 |
->G |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, downstream transcript variant, genic downstream transcript variant |
|
rs587777329 |
T>- |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, frameshift variant, downstream transcript variant, genic downstream transcript variant |
|
rs751539788 |
C>G,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, missense variant |
|
rs763827023 |
G>C,T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, stop gained |
|
rs797044953 |
A>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs864321657 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs886039432 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs886041593 |
A>G |
Pathogenic |
Intron variant |
|
rs886041755 |
T>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs936256673 |
C>G,T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1064795732 |
A>T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs1064796001 |
A>- |
Likely-pathogenic |
Downstream transcript variant, genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1064796348 |
CT>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1064796399 |
C>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1131691711 |
CA>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1135401767 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1181898358 |
C>G,T |
Pathogenic |
Missense variant, genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1218918142 |
C>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, synonymous variant |
|
rs1421204500 |
C>A,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, synonymous variant, coding sequence variant, stop gained |
|
rs1553618323 |
CCAAAGACGAAGAAAATCAAGGTATGCAGGGTAAAAATATCTTAAATAGAAATTGTCTGAAATAGCTTAAATTTTGGAGCA>- |
Pathogenic |
Splice donor variant, non coding transcript variant, intron variant, 5 prime UTR variant, coding sequence variant |
|
rs1553621390 |
->GTGGGAAAGTC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1553621754 |
G>T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1553622384 |
AT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1553623299 |
T>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553623880 |
A>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1553625037 |
A>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553625691 |
G>C |
Pathogenic |
Splice acceptor variant |
|
rs1553625836 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1553625881 |
C>G |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553626575 |
C>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553629676 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553629700 |
A>T |
Pathogenic |
Stop gained, 3 prime UTR variant, non coding transcript variant, coding sequence variant |
|
rs1553635477 |
->T |
Pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1553635637 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1553638715 |
->A |
Pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1553638877 |
->T |
Pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1553639194 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1553640320 |
C>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1553640838 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1553641424 |
->C |
Pathogenic |
Downstream transcript variant, non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1553641476 |
->C |
Likely-pathogenic |
Downstream transcript variant, non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1559413463 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1559427364 |
C>G,T |
Pathogenic |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
|
rs1559439258 |
->T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1559451052 |
AT>- |
Pathogenic |
Frameshift variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant |
|
rs1559496157 |
C>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1575421295 |
C>T |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1575427309 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1575427610 |
A>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1575430613 |
A>G |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1575449107 |
ACCACCTCCT>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1575453353 |
->T |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1575466399 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1575466995 |
->T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1575467723 |
CT>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1575467870 |
->C |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1575472601 |
->C |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1575475545 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1575475764 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1575508937 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant, downstream transcript variant |