| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs137853127 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs797044874 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs863224917 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs875989830 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs878853163 |
T>A,C |
Pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant |
|
rs886039740 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs886041516 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs886041685 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
|
rs886041847 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant, genic downstream transcript variant |
|
rs1057518190 |
C>G,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1057518496 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1057518614 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1057524205 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1064793820 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1064793947 |
C>A |
Pathogenic |
Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1064794638 |
A>T |
Likely-pathogenic |
5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1064795247 |
A>C |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant |
|
rs1064795530 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1064795817 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1064796649 |
A>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant |
|
rs1085308028 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1131691672 |
C>G |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant |
|
rs1135401803 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1357010510 |
A>G,T |
Pathogenic |
Upstream transcript variant, non coding transcript variant, stop gained, synonymous variant, coding sequence variant, genic upstream transcript variant |
|
rs1391758713 |
G>A,T |
Pathogenic |
Stop gained, genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1424984467 |
G>A,C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, stop gained |
|
rs1553493553 |
C>T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553496051 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553496358 |
C>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant, genic downstream transcript variant |
|
rs1553496413 |
C>- |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553504273 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant |
|
rs1553507389 |
->T |
Not-provided, pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant |
|
rs1553507391 |
T>C |
Likely-pathogenic |
Missense variant, initiator codon variant, genic upstream transcript variant, intron variant, non coding transcript variant |
|
rs1553538888 |
->C |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553538917 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553538919 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1553544102 |
TC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553544133 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553544158 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553544187 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1553546975 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553547055 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553547838 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553547885 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1553547906 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553551647 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553551705 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1558995207 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1559016679 |
C>T |
Pathogenic-likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1559052017 |
A>C |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1559052032 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant |
|
rs1559052053 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant |
|
rs1559135904 |
C>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, stop gained |
|
rs1559136015 |
->T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1559136052 |
->A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1559136245 |
G>A |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1559164234 |
->CCTC |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1559164403 |
C>G |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1559174813 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1559174854 |
A>C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1559175170 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1574459072 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1574492395 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1574510975 |
GCTG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1574532220 |
GACT>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1574532452 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1574554519 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1574566833 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1574566973 |
T>C |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1574645299 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs1574645416 |
C>- |
Likely-pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |