SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs104894377 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs104894378 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs104894379 |
G>A,C,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs104894381 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs104894382 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs104894383 |
G>T |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs104894384 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs115178276 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
rs147405081 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign |
Missense variant, coding sequence variant |
rs200461617 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant |
rs377649723 |
C>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
rs483353129 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
rs515726234 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs756049331 |
G>A,C |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
rs765204502 |
G>A,C |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant |
rs767197919 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs773397553 |
G>T |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
rs863223773 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
rs863223776 |
C>A,G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs863223777 |
G>A |
Pathogenic |
Intron variant, stop gained, coding sequence variant |
rs863223778 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs863223782 |
GGCCAGGCATGGCGGGCTCAGCTTTGC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
rs863223783 |
GGTGGCGGGGGAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs863223784 |
CAATGCGCCCCGGTGGCGGGGGA>TCCTGG |
Pathogenic |
Frameshift variant, coding sequence variant |
rs863223785 |
TGAGCTTGAGTTTCTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs863223786 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs863223788 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs878853750 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886041247 |
G>C,T |
Pathogenic |
Coding sequence variant, stop gained |
rs886041606 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs903933027 |
G>C,T |
Pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant |
rs1057516042 |
G>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
rs1057517833 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1057518199 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1057519050 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1057520136 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1060503154 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1064794030 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1064794062 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1064795870 |
G>-,GG |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
rs1131691460 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1131691932 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1555223259 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
rs1555223294 |
TTC>CT,GT |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1555225344 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs1555225989 |
->AACG |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555226005 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555226301 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Intron variant |
rs1555226305 |
TTGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555226315 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1555226322 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555226412 |
G>- |
Pathogenic |
Stop gained, coding sequence variant |
rs1555226420 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555226575 |
C>A,T |
Likely-pathogenic |
Intron variant |
rs1555226584 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1555226588 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1565923835 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
rs1565923887 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1565927645 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1565927664 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
rs1565927740 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1565927747 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1565927794 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1565927906 |
C>G |
Pathogenic |
Splice acceptor variant |
rs1565935314 |
A>G |
Likely-pathogenic |
Splice donor variant |
rs1565935397 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1565935410 |
AATC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1565935426 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1565935432 |
A>C |
Pathogenic |
Stop gained, coding sequence variant |
rs1565935458 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs1565939303 |
->TTTTCATCCGCTTT |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1565939337 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1565940841 |
C>A |
Likely-pathogenic |
Splice donor variant |
rs1565941046 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1565941072 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs1565941422 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1565941529 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1565941579 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1565941587 |
ATCC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1565942511 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs1565943328 |
->A |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
rs1593836748 |
->CG |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1593847163 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1593876058 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1593880204 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1593881162 |
A>G |
Pathogenic |
Splice donor variant |
rs1593883930 |
AACACTTTGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |