rs116840818
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs116840818(A;A) |
Make rs116840818(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 71223894 |
Gene | GJB1 |
is a | snp |
is | mentioned by |
dbSNP | rs116840818 |
dbSNP (classic) | rs116840818 |
ClinGen | rs116840818 |
ebi | rs116840818 |
HLI | rs116840818 |
Exac | rs116840818 |
Gnomad | rs116840818 |
Varsome | rs116840818 |
LitVar | rs116840818 |
Map | rs116840818 |
PheGenI | rs116840818 |
Biobank | rs116840818 |
1000 genomes | rs116840818 |
hgdp | rs116840818 |
ensembl | rs116840818 |
geneview | rs116840818 |
scholar | rs116840818 |
rs116840818 | |
pharmgkb | rs116840818 |
gwascentral | rs116840818 |
openSNP | rs116840818 |
23andMe | rs116840818 |
SNPshot | rs116840818 |
SNPdbe | rs116840818 |
MSV3d | rs116840818 |
GWAS Ctlg | rs116840818 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116840818(A;A) |
Alt | rs116840818(A;A) |
Reference | Rs116840818(G;G) |
Significance | Pathogenic |
Disease | X-linked hereditary motor and sensory neuropathy not provided |
Variation | info |
Gene | GJB1 |
CLNDBN | X-linked hereditary motor and sensory neuropathy not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.70443744G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000020171.1, RCV000217618.1, |