| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs72547556 |
T>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant |
|
rs72547561 |
C>G,T |
Pathogenic |
Stop gained, 5 prime UTR variant, missense variant, coding sequence variant |
|
rs72547562 |
C>T |
Pathogenic |
5 prime UTR variant, missense variant, coding sequence variant |
|
rs72547568 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs72547569 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs72547570 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs72547571 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs72547575 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs148944691 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs387906256 |
GA>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
|
rs387906257 |
->ACAAA |
Likely-pathogenic |
Intron variant, coding sequence variant, frameshift variant |
|
rs767751416 |
CGACAGGCGTTCCTGTCCGGCCGGTC>- |
Pathogenic |
5 prime UTR variant, frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs772967175 |
->A |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
|
rs786205501 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs866392702 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs886039304 |
CCATC>- |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs886039305 |
A>G,T |
Pathogenic |
Splice acceptor variant |
|
rs1010078101 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1057517352 |
GTTTGT>- |
Pathogenic |
Intron variant, splice donor variant |
|
rs1400349287 |
T>A,C,G |
Likely-pathogenic |
Intron variant |
|
rs1555533541 |
T>G |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs1555534430 |
->TAAAAGTA |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555534434 |
C>TGTTGGGG |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555534472 |
A>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1567607328 |
A>T |
Pathogenic |
Intron variant, stop gained, coding sequence variant |
|
rs1597556369 |
TTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTC |
Likely-pathogenic |
Coding sequence variant, intron variant, splice donor variant |