| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs138771137 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Synonymous variant, coding sequence variant |
|
rs141109968 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs199526748 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs199707487 |
G>A,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, coding sequence variant |
|
rs200608452 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, coding sequence variant |
|
rs201439880 |
G>A,C |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
|
rs201672517 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs202223470 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, coding sequence variant |
|
rs374746622 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs375217280 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs387906636 |
G>A |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs398122823 |
->G |
Likely-pathogenic, pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs398122824 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs796052578 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs797044849 |
C>A,G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs864309560 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs869312669 |
T>G |
Uncertain-significance, pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs876661055 |
A>G |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs876661064 |
G>A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs876661076 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs876661102 |
TTC>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs876661167 |
C>T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs876661219 |
A>C,G |
Likely-pathogenic, pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs879253931 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs879254013 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs886041095 |
C>T |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs1057518520 |
->GAGC |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057518800 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057518988 |
T>C |
Likely-pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs1057519611 |
C>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1057519612 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1060499526 |
GT>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1064794979 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1064796752 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1085307547 |
C>A,T |
Likely-pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs1168374610 |
C>A,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555101670 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555102552 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555103150 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1555103159 |
T>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs1555103646 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555103652 |
A>C |
Likely-pathogenic |
Initiator codon variant, missense variant, coding sequence variant |
|
rs1555103971 |
C>T |
Pathogenic, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, intron variant |
|
rs1555103995 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs1555133006 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1555133077 |
C>A |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
|
rs1565453023 |
AT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1565457924 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
|
rs1591605498 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1591605549 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1591606580 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1591609065 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1591609136 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1591611001 |
A>C |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs1591612223 |
T>C |
Pathogenic |
Intron variant |
|
rs1591612317 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1591612370 |
->GGTGAGAAGTCATTAGGTCTCTGGAACTGG |
Likely-pathogenic |
Intron variant, splice acceptor variant, coding sequence variant |