rs1064797090
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 13 |
Position | 20189410 |
Gene | GJB2 |
is a | snp |
is | mentioned by |
dbSNP | rs1064797090 |
dbSNP (classic) | rs1064797090 |
ClinGen | rs1064797090 |
ebi | rs1064797090 |
HLI | rs1064797090 |
Exac | rs1064797090 |
Gnomad | rs1064797090 |
Varsome | rs1064797090 |
LitVar | rs1064797090 |
Map | rs1064797090 |
PheGenI | rs1064797090 |
Biobank | rs1064797090 |
1000 genomes | rs1064797090 |
hgdp | rs1064797090 |
ensembl | rs1064797090 |
geneview | rs1064797090 |
scholar | rs1064797090 |
rs1064797090 | |
pharmgkb | rs1064797090 |
gwascentral | rs1064797090 |
openSNP | rs1064797090 |
23andMe | rs1064797090 |
SNPshot | rs1064797090 |
SNPdbe | rs1064797090 |
MSV3d | rs1064797090 |
GWAS Ctlg | rs1064797090 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064797090(G;G) |
Alt | rs1064797090(G;G) |
Reference | Rs1064797090(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | GJB2 |
CLNDBN | Deafness, autosomal dominant 3a |
Reversed | 1 |
HGVS | NC_000013.10:g.20763549G>C |
CLNSRC | |
CLNACC | RCV000487476.1, |