rs397517206
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CG;CG) | 0 | common in clinvar |
Make rs397517206(CG;T) |
Make rs397517206(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 20223420 |
Gene | GJB6 |
is a | snp |
is | mentioned by |
dbSNP | rs397517206 |
dbSNP (classic) | rs397517206 |
ClinGen | rs397517206 |
ebi | rs397517206 |
HLI | rs397517206 |
Exac | rs397517206 |
Gnomad | rs397517206 |
Varsome | rs397517206 |
LitVar | rs397517206 |
Map | rs397517206 |
PheGenI | rs397517206 |
Biobank | rs397517206 |
1000 genomes | rs397517206 |
hgdp | rs397517206 |
ensembl | rs397517206 |
geneview | rs397517206 |
scholar | rs397517206 |
rs397517206 | |
pharmgkb | rs397517206 |
gwascentral | rs397517206 |
openSNP | rs397517206 |
23andMe | rs397517206 |
SNPshot | rs397517206 |
SNPdbe | rs397517206 |
MSV3d | rs397517206 |
GWAS Ctlg | rs397517206 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517206(T;T) |
Alt | rs397517206(T;T) |
Reference | Rs397517206(CG;CG) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hearing loss and deafness not provided |
Variation | info |
Gene | GJB6 |
CLNDBN | Nonsyndromic hearing loss and deafness not provided |
Reversed | 1 |
HGVS | NC_000013.10:g.20797559_20797560delCGinsA |
CLNSRC | ClinVar |
CLNACC | RCV000038711.2, RCV000486219.1, |