rs211694397
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs211694397(A;A) |
Make rs211694397(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 64235081 |
Gene | ESR2 |
is a | snp |
is | mentioned by |
dbSNP | rs211694397 |
dbSNP (classic) | rs211694397 |
ClinGen | rs211694397 |
ebi | rs211694397 |
HLI | rs211694397 |
Exac | rs211694397 |
Gnomad | rs211694397 |
Varsome | rs211694397 |
LitVar | rs211694397 |
Map | rs211694397 |
PheGenI | rs211694397 |
Biobank | rs211694397 |
1000 genomes | rs211694397 |
hgdp | rs211694397 |
ensembl | rs211694397 |
geneview | rs211694397 |
scholar | rs211694397 |
rs211694397 | |
pharmgkb | rs211694397 |
gwascentral | rs211694397 |
openSNP | rs211694397 |
23andMe | rs211694397 |
SNPshot | rs211694397 |
SNPdbe | rs211694397 |
MSV3d | rs211694397 |
GWAS Ctlg | rs211694397 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs211694397(A;A) |
Alt | rs211694397(A;A) |
Reference | Rs211694397(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | ESR2 |
CLNDBN | Deafness, autosomal recessive 35 |
Reversed | 1 |
HGVS | NC_000014.8:g.64701799G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007927.2, |