rs375916159
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs375916159(G;T) |
Make rs375916159(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 76482759 |
Gene | ESRRB |
is a | snp |
is | mentioned by |
dbSNP | rs375916159 |
dbSNP (classic) | rs375916159 |
ClinGen | rs375916159 |
ebi | rs375916159 |
HLI | rs375916159 |
Exac | rs375916159 |
Gnomad | rs375916159 |
Varsome | rs375916159 |
LitVar | rs375916159 |
Map | rs375916159 |
PheGenI | rs375916159 |
Biobank | rs375916159 |
1000 genomes | rs375916159 |
hgdp | rs375916159 |
ensembl | rs375916159 |
geneview | rs375916159 |
scholar | rs375916159 |
rs375916159 | |
pharmgkb | rs375916159 |
gwascentral | rs375916159 |
openSNP | rs375916159 |
23andMe | rs375916159 |
SNPshot | rs375916159 |
SNPdbe | rs375916159 |
MSV3d | rs375916159 |
GWAS Ctlg | rs375916159 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375916159(A;A) rs375916159(T;T) |
Alt | rs375916159(A;A) rs375916159(T;T) |
Reference | Rs375916159(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | ESRRB |
CLNDBN | Deafness, autosomal recessive 35 |
Reversed | 0 |
HGVS | NC_000014.8:g.76949102G>A |
CLNSRC | |
CLNACC | RCV000454210.1, |