rs104894822
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104894822(A;G) |
Make rs104894822(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 71224321 |
Gene | GJB1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894822 |
dbSNP (classic) | rs104894822 |
ClinGen | rs104894822 |
ebi | rs104894822 |
HLI | rs104894822 |
Exac | rs104894822 |
Gnomad | rs104894822 |
Varsome | rs104894822 |
LitVar | rs104894822 |
Map | rs104894822 |
PheGenI | rs104894822 |
Biobank | rs104894822 |
1000 genomes | rs104894822 |
hgdp | rs104894822 |
ensembl | rs104894822 |
geneview | rs104894822 |
scholar | rs104894822 |
rs104894822 | |
pharmgkb | rs104894822 |
gwascentral | rs104894822 |
openSNP | rs104894822 |
23andMe | rs104894822 |
SNPshot | rs104894822 |
SNPdbe | rs104894822 |
MSV3d | rs104894822 |
GWAS Ctlg | rs104894822 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894822(G;G) |
Alt | rs104894822(G;G) |
Reference | Rs104894822(A;A) |
Significance | Pathogenic |
Disease | X-linked hereditary motor and sensory neuropathy |
Variation | info |
Gene | GJB1 |
CLNDBN | X-linked hereditary motor and sensory neuropathy |
Reversed | 0 |
HGVS | NC_000023.10:g.70444171A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011187.3, |