rs397516874
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a recessive deafness mutation |
Make rs397516874(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 20189212 |
Gene | GJB2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516874 |
dbSNP (classic) | rs397516874 |
ClinGen | rs397516874 |
ebi | rs397516874 |
HLI | rs397516874 |
Exac | rs397516874 |
Gnomad | rs397516874 |
Varsome | rs397516874 |
LitVar | rs397516874 |
Map | rs397516874 |
PheGenI | rs397516874 |
Biobank | rs397516874 |
1000 genomes | rs397516874 |
hgdp | rs397516874 |
ensembl | rs397516874 |
geneview | rs397516874 |
scholar | rs397516874 |
rs397516874 | |
pharmgkb | rs397516874 |
gwascentral | rs397516874 |
openSNP | rs397516874 |
23andMe | rs397516874 |
SNPshot | rs397516874 |
SNPdbe | rs397516874 |
MSV3d | rs397516874 |
GWAS Ctlg | rs397516874 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs397516874(T;T) |
Alt | rs397516874(T;T) |
Reference | Rs397516874(C;C) |
Significance | Pathogenic |
Disease | Deafness Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | GJB2 |
CLNDBN | Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness |
Reversed | 1 |
HGVS | NC_000013.10:g.20763351G>A |
CLNSRC | ClinVar |
CLNACC | RCV000037846.4, RCV000211777.1, |