| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs34066624 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided, benign-likely-benign |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs55821172 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs118204026 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained, genic upstream transcript variant |
|
rs118204027 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs118204028 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs118204029 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs118204030 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs118204031 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs138139146 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs143157673 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs199594270 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, genic upstream transcript variant |
|
rs200045032 |
G>T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs200793989 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, synonymous variant |
|
rs201117318 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs368119524 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, genic upstream transcript variant |
|
rs375936342 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, synonymous variant, coding sequence variant |
|
rs377748152 |
C>G,T |
Likely-pathogenic |
Stop gained, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs549095193 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs727503528 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs747619979 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs750078356 |
C>G,T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant, stop gained |
|
rs750744696 |
GA>- |
Likely-pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs776720591 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1057520081 |
T>C,G |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1060499809 |
C>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1228392408 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
|
rs1233777224 |
GA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1555894574 |
AGAGGTGGGTAGAGTCCCAGGGCCCA>- |
Pathogenic |
Genic upstream transcript variant, intron variant, coding sequence variant, splice donor variant |
|
rs1555896285 |
AG>- |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1569034190 |
C>G |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1569040134 |
C>T |
Likely-pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs1569042640 |
CCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACC>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1569042693 |
C>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1569042782 |
CTGATCCCCCAAG>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1569046250 |
G>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1601632909 |
CG>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1601639680 |
GA>- |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |