rs764139009
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs764139009(C;C) |
Make rs764139009(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 22 |
Position | 36285878 |
Gene | MYH9 |
is a | snp |
is | mentioned by |
dbSNP | rs764139009 |
dbSNP (classic) | rs764139009 |
ClinGen | rs764139009 |
ebi | rs764139009 |
HLI | rs764139009 |
Exac | rs764139009 |
Gnomad | rs764139009 |
Varsome | rs764139009 |
LitVar | rs764139009 |
Map | rs764139009 |
PheGenI | rs764139009 |
Biobank | rs764139009 |
1000 genomes | rs764139009 |
hgdp | rs764139009 |
ensembl | rs764139009 |
geneview | rs764139009 |
scholar | rs764139009 |
rs764139009 | |
pharmgkb | rs764139009 |
gwascentral | rs764139009 |
openSNP | rs764139009 |
23andMe | rs764139009 |
SNPshot | rs764139009 |
SNPdbe | rs764139009 |
MSV3d | rs764139009 |
GWAS Ctlg | rs764139009 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764139009(C;C) |
Alt | rs764139009(C;C) |
Reference | Rs764139009(T;T) |
Significance | Pathogenic |
Disease | Autosomal recessive non-syndromic sensorineural deafness type DFNB |
Variation | info |
Gene | MYH9 |
CLNDBN | Autosomal recessive non-syndromic sensorineural deafness type DFNB |
Reversed | 0 |
HGVS | NC_000022.10:g.36681924T>C |
CLNSRC | |
CLNACC | RCV000454246.1, |