rs121909110
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909110(C;T) |
Make rs121909110(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 76439682 |
Gene | ESRRB |
is a | snp |
is | mentioned by |
dbSNP | rs121909110 |
dbSNP (classic) | rs121909110 |
ClinGen | rs121909110 |
ebi | rs121909110 |
HLI | rs121909110 |
Exac | rs121909110 |
Gnomad | rs121909110 |
Varsome | rs121909110 |
LitVar | rs121909110 |
Map | rs121909110 |
PheGenI | rs121909110 |
Biobank | rs121909110 |
1000 genomes | rs121909110 |
hgdp | rs121909110 |
ensembl | rs121909110 |
geneview | rs121909110 |
scholar | rs121909110 |
rs121909110 | |
pharmgkb | rs121909110 |
gwascentral | rs121909110 |
openSNP | rs121909110 |
23andMe | rs121909110 |
SNPshot | rs121909110 |
SNPdbe | rs121909110 |
MSV3d | rs121909110 |
GWAS Ctlg | rs121909110 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909110(T;T) |
Alt | rs121909110(T;T) |
Reference | Rs121909110(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | ESRRB |
CLNDBN | Deafness, autosomal recessive 35 |
Reversed | 0 |
HGVS | NC_000014.8:g.76906025C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007928.2, |