rs779445819
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs779445819(A;A) |
Make rs779445819(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 18148108 |
Gene | LOC105371568, MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs779445819 |
dbSNP (classic) | rs779445819 |
ClinGen | rs779445819 |
ebi | rs779445819 |
HLI | rs779445819 |
Exac | rs779445819 |
Gnomad | rs779445819 |
Varsome | rs779445819 |
LitVar | rs779445819 |
Map | rs779445819 |
PheGenI | rs779445819 |
Biobank | rs779445819 |
1000 genomes | rs779445819 |
hgdp | rs779445819 |
ensembl | rs779445819 |
geneview | rs779445819 |
scholar | rs779445819 |
rs779445819 | |
pharmgkb | rs779445819 |
gwascentral | rs779445819 |
openSNP | rs779445819 |
23andMe | rs779445819 |
SNPshot | rs779445819 |
SNPdbe | rs779445819 |
MSV3d | rs779445819 |
GWAS Ctlg | rs779445819 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779445819(A;A) rs779445819(T;T) |
Alt | rs779445819(A;A) rs779445819(T;T) |
Reference | Rs779445819(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Deafness, autosomal recessive 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.18051422C>T |
CLNSRC | |
CLNACC | RCV000230303.2, |