| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs112795301 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, intron variant |
|
rs200355554 |
G>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant |
|
rs398124429 |
->CTGCTCTGCATGTTTT |
Pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs532329866 |
G>A |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs587777855 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant |
|
rs763837297 |
C>A,T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs769448730 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant |
|
rs775136381 |
G>A,C,T |
Pathogenic |
Coding sequence variant, synonymous variant, non coding transcript variant, genic downstream transcript variant, missense variant, stop gained |
|
rs786200948 |
CA>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs794727155 |
G>C,T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs794727215 |
G>A |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs794727216 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, non coding transcript variant |
|
rs797044652 |
->G |
Pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs797045584 |
G>A,T |
Pathogenic |
Stop gained, non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs797045586 |
C>T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
|
rs869025202 |
T>C |
Pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs869025203 |
G>A |
Pathogenic |
Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
|
rs886041821 |
->AAAACACTTGTGAAGACTAAGATTAT |
Pathogenic |
Intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1057518926 |
G>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs1057518999 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1057524152 |
G>A,C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, synonymous variant |
|
rs1057524732 |
G>A |
Pathogenic |
Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs1064793130 |
AG>- |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1064793944 |
G>C,T |
Pathogenic |
Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs1064795306 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs1064796914 |
AG>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1135401796 |
GCTGAAT>- |
Pathogenic |
Splice acceptor variant, intron variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1553656383 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, intron variant |
|
rs1553656387 |
C>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1553660890 |
CTTACCTGTAA>- |
Pathogenic |
Splice donor variant, non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs1553660900 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1553663084 |
C>T |
Uncertain-significance, pathogenic |
Non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1553667322 |
G>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1553668196 |
C>G |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs1553668386 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs1553668839 |
T>A |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1553678368 |
C>G |
Pathogenic |
Genic downstream transcript variant, intron variant |
|
rs1553678501 |
T>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1553685707 |
T>G |
Pathogenic |
Genic downstream transcript variant, intron variant, splice acceptor variant |
|
rs1553709881 |
G>A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1553709907 |
T>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1553709919 |
G>A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1559596230 |
ACCTGTAAAGCTGCA>- |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant, non coding transcript variant, coding sequence variant |
|
rs1559596699 |
->TTTTAATAAGGGAAGGGTTA |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1559596756 |
T>A |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1559602356 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1559616778 |
A>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1559617016 |
GTGAAGCAGAA>- |
Likely-pathogenic |
Intron variant, genic downstream transcript variant |
|
rs1559619762 |
C>G |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1559620376 |
TG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1559621862 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1559650552 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1559807265 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1575741313 |
C>T |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1575757812 |
A>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, missense variant, genic downstream transcript variant |
|
rs1575798009 |
->GATTCGAGAATGGC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs1575803923 |
GCCT>- |
Pathogenic |
Non coding transcript variant, splice donor variant, coding sequence variant, genic downstream transcript variant |
|
rs1575806033 |
TGAGTACC>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs1575806352 |
->TGTGC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs1576028676 |
C>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, missense variant, genic downstream transcript variant |
|
rs1576175491 |
C>G |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1576373932 |
AG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|