rs61742642
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs61742642(C;T) |
Make rs61742642(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 14 |
Position | 76498312 |
Gene | ESRRB |
is a | snp |
is | mentioned by |
dbSNP | rs61742642 |
dbSNP (classic) | rs61742642 |
ClinGen | rs61742642 |
ebi | rs61742642 |
HLI | rs61742642 |
Exac | rs61742642 |
Gnomad | rs61742642 |
Varsome | rs61742642 |
LitVar | rs61742642 |
Map | rs61742642 |
PheGenI | rs61742642 |
Biobank | rs61742642 |
1000 genomes | rs61742642 |
hgdp | rs61742642 |
ensembl | rs61742642 |
geneview | rs61742642 |
scholar | rs61742642 |
rs61742642 | |
pharmgkb | rs61742642 |
gwascentral | rs61742642 |
openSNP | rs61742642 |
23andMe | rs61742642 |
SNPshot | rs61742642 |
SNPdbe | rs61742642 |
MSV3d | rs61742642 |
GWAS Ctlg | rs61742642 |
Max Magnitude | 0 |
[PMID 25938503] Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis.
ClinVar | |
---|---|
Risk | rs61742642(A;A) rs61742642(T;T) |
Alt | rs61742642(A;A) rs61742642(T;T) |
Reference | Rs61742642(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Nonsyndromic Hearing Loss |
Variation | info |
Gene | ESRRB |
CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive |
Reversed | 0 |
HGVS | NC_000014.8:g.76964655C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000038134.3, RCV000349077.1, |
[PMID 27399974] A polymorphism in human estrogen-related receptor beta (ESRRβ) predicts audiometric temporary threshold shift.