rs375290498
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs375290498(A;A) |
Make rs375290498(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 18143580 |
Gene | MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs375290498 |
dbSNP (classic) | rs375290498 |
ClinGen | rs375290498 |
ebi | rs375290498 |
HLI | rs375290498 |
Exac | rs375290498 |
Gnomad | rs375290498 |
Varsome | rs375290498 |
LitVar | rs375290498 |
Map | rs375290498 |
PheGenI | rs375290498 |
Biobank | rs375290498 |
1000 genomes | rs375290498 |
hgdp | rs375290498 |
ensembl | rs375290498 |
geneview | rs375290498 |
scholar | rs375290498 |
rs375290498 | |
pharmgkb | rs375290498 |
gwascentral | rs375290498 |
openSNP | rs375290498 |
23andMe | rs375290498 |
SNPshot | rs375290498 |
SNPdbe | rs375290498 |
MSV3d | rs375290498 |
GWAS Ctlg | rs375290498 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375290498(A;A) rs375290498(T;T) |
Alt | rs375290498(A;A) rs375290498(T;T) |
Reference | Rs375290498(G;G) |
Significance | Pathogenic |
Disease | Deafness not specified not provided |
Variation | info |
Gene | MYO15A |
CLNDBN | Deafness, autosomal recessive 3 not specified not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.18046894G>A |
CLNSRC | |
CLNACC | RCV000185531.2, RCV000216211.1, RCV000255905.1, |