| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs387906649 |
T>C |
Risk-factor, pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, initiator codon variant, missense variant, non coding transcript variant, 5 prime UTR variant |
|
rs387906650 |
G>A |
Risk-factor, pathogenic |
Coding sequence variant, intron variant, genic downstream transcript variant, stop gained, non coding transcript variant, 5 prime UTR variant |
|
rs587781931 |
->T |
Likely-pathogenic, pathogenic |
Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs752477890 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant |
|
rs786203385 |
C>T |
Pathogenic, risk-factor |
Intron variant, splice donor variant, non coding transcript variant, genic downstream transcript variant |
|
rs876659610 |
A>T |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant, intron variant, genic downstream transcript variant |
|
rs876660073 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, 3 prime UTR variant, non coding transcript variant, missense variant, intron variant, genic downstream transcript variant |
|
rs1060500101 |
ACTGGATATAT>- |
Pathogenic |
Intron variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs1167538050 |
G>A |
Likely-pathogenic, pathogenic |
Intron variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, synonymous variant |
|
rs1193255946 |
A>G,T |
Pathogenic |
Synonymous variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, intron variant, stop gained, genic downstream transcript variant |
|
rs1555340550 |
C>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic downstream transcript variant |
|
rs1566600827 |
T>- |
Risk-factor |
5 prime UTR variant, coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic downstream transcript variant |
|
rs1595130972 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, intron variant, non coding transcript variant |
|