rs768834663
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs768834663(A;A) |
Make rs768834663(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 71223790 |
Gene | GJB1 |
is a | snp |
is | mentioned by |
dbSNP | rs768834663 |
dbSNP (classic) | rs768834663 |
ClinGen | rs768834663 |
ebi | rs768834663 |
HLI | rs768834663 |
Exac | rs768834663 |
Gnomad | rs768834663 |
Varsome | rs768834663 |
LitVar | rs768834663 |
Map | rs768834663 |
PheGenI | rs768834663 |
Biobank | rs768834663 |
1000 genomes | rs768834663 |
hgdp | rs768834663 |
ensembl | rs768834663 |
geneview | rs768834663 |
scholar | rs768834663 |
rs768834663 | |
pharmgkb | rs768834663 |
gwascentral | rs768834663 |
openSNP | rs768834663 |
23andMe | rs768834663 |
SNPshot | rs768834663 |
SNPdbe | rs768834663 |
MSV3d | rs768834663 |
GWAS Ctlg | rs768834663 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768834663(A;A) rs768834663(C;C) |
Alt | rs768834663(A;A) rs768834663(C;C) |
Reference | Rs768834663(T;T) |
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.70443640T>A; NC_000023.10:g.70443640T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000198281.2, RCV000235732.2, |