rs779696968
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs779696968(A;G) |
Make rs779696968(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 71224012 |
Gene | GJB1 |
is a | snp |
is | mentioned by |
dbSNP | rs779696968 |
dbSNP (classic) | rs779696968 |
ClinGen | rs779696968 |
ebi | rs779696968 |
HLI | rs779696968 |
Exac | rs779696968 |
Gnomad | rs779696968 |
Varsome | rs779696968 |
LitVar | rs779696968 |
Map | rs779696968 |
PheGenI | rs779696968 |
Biobank | rs779696968 |
1000 genomes | rs779696968 |
hgdp | rs779696968 |
ensembl | rs779696968 |
geneview | rs779696968 |
scholar | rs779696968 |
rs779696968 | |
pharmgkb | rs779696968 |
gwascentral | rs779696968 |
openSNP | rs779696968 |
23andMe | rs779696968 |
SNPshot | rs779696968 |
SNPdbe | rs779696968 |
MSV3d | rs779696968 |
GWAS Ctlg | rs779696968 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779696968(G;G) |
Alt | rs779696968(G;G) |
Reference | Rs779696968(A;A) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth Neuropathy X not provided |
Variation | info |
Gene | GJB1 |
CLNDBN | Charcot-Marie-Tooth Neuropathy X not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.70443862A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000200289.4, RCV000349313.1, |