rs546575046
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs546575046(A;A) |
Make rs546575046(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 18171691 |
Gene | MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs546575046 |
dbSNP (classic) | rs546575046 |
ClinGen | rs546575046 |
ebi | rs546575046 |
HLI | rs546575046 |
Exac | rs546575046 |
Gnomad | rs546575046 |
Varsome | rs546575046 |
LitVar | rs546575046 |
Map | rs546575046 |
PheGenI | rs546575046 |
Biobank | rs546575046 |
1000 genomes | rs546575046 |
hgdp | rs546575046 |
ensembl | rs546575046 |
geneview | rs546575046 |
scholar | rs546575046 |
rs546575046 | |
pharmgkb | rs546575046 |
gwascentral | rs546575046 |
openSNP | rs546575046 |
23andMe | rs546575046 |
SNPshot | rs546575046 |
SNPdbe | rs546575046 |
MSV3d | rs546575046 |
GWAS Ctlg | rs546575046 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs546575046(A;A) rs546575046(T;T) |
Alt | rs546575046(A;A) rs546575046(T;T) |
Reference | Rs546575046(C;C) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000017.10:g.18075005C>A |
CLNSRC | |
CLNACC | RCV000156009.1, |