| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs132630263 |
GG>TC |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs132630264 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs132630265 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs132630266 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs132630267 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs369829791 |
A>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
|
rs373242750 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs386833676 |
->A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs397514603 |
T>C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs527236048 |
G>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs587776746 |
ACAA>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs776256380 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs786204761 |
C>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs786205604 |
C>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs886041174 |
C>A |
Pathogenic |
Upstream transcript variant, splice donor variant, genic upstream transcript variant |
|
rs886041175 |
C>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs886041176 |
GACT>- |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant, intron variant, 5 prime UTR variant, coding sequence variant |
|
rs886041177 |
CT>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs886041178 |
G>A,T |
Pathogenic |
Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs886041179 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs886041180 |
A>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs886041181 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs886043716 |
GTAA>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs912390081 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs1057516265 |
T>C |
Likely-pathogenic |
Upstream transcript variant, 5 prime UTR variant, initiator codon variant, missense variant, genic upstream transcript variant |
|
rs1057517714 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1057517715 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1057517716 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1057517717 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1057520629 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1057520765 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs1057521475 |
C>T |
Likely-pathogenic |
Genic upstream transcript variant, upstream transcript variant, intron variant |
|
rs1555955061 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, intron variant |
|
rs1555958073 |
T>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1555968874 |
AGC>- |
Likely-pathogenic |
Inframe deletion, 5 prime UTR variant, coding sequence variant |
|
rs1555972050 |
->A |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant |
|
rs1556191599 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1556207100 |
G>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1556217900 |
A>T |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1556257626 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, synonymous variant, coding sequence variant |
|
rs1556277815 |
G>C,T |
Pathogenic |
Genic downstream transcript variant, stop gained, missense variant, coding sequence variant |
|
rs1556307648 |
->CA |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1556307713 |
T>C |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1603236385 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1603244690 |
G>C |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1603262410 |
->TATG |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1603263147 |
C>G |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1603264410 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1603264449 |
GC>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1603288794 |
GTCCCT>TTCCC |
Pathogenic |
Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant |
|
rs1603288815 |
AT>- |
Pathogenic |
Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant |
|
rs1603288832 |
C>A |
Likely-pathogenic |
Coding sequence variant, upstream transcript variant, 5 prime UTR variant, stop gained, genic upstream transcript variant |
|
rs1603288875 |
C>T |
Likely-pathogenic |
Upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, initiator codon variant, missense variant |