rs104894820
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894820(G;T) |
Make rs104894820(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 71223744 |
Gene | GJB1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894820 |
dbSNP (classic) | rs104894820 |
ClinGen | rs104894820 |
ebi | rs104894820 |
HLI | rs104894820 |
Exac | rs104894820 |
Gnomad | rs104894820 |
Varsome | rs104894820 |
LitVar | rs104894820 |
Map | rs104894820 |
PheGenI | rs104894820 |
Biobank | rs104894820 |
1000 genomes | rs104894820 |
hgdp | rs104894820 |
ensembl | rs104894820 |
geneview | rs104894820 |
scholar | rs104894820 |
rs104894820 | |
pharmgkb | rs104894820 |
gwascentral | rs104894820 |
openSNP | rs104894820 |
23andMe | rs104894820 |
SNPshot | rs104894820 |
SNPdbe | rs104894820 |
MSV3d | rs104894820 |
GWAS Ctlg | rs104894820 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894820(A;A) rs104894820(T;T) |
Alt | rs104894820(A;A) rs104894820(T;T) |
Reference | Rs104894820(G;G) |
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.70443594G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011184.5, |