rs104894814
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894814(C;T) |
Make rs104894814(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 71224365 |
Gene | GJB1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894814 |
dbSNP (classic) | rs104894814 |
ClinGen | rs104894814 |
ebi | rs104894814 |
HLI | rs104894814 |
Exac | rs104894814 |
Gnomad | rs104894814 |
Varsome | rs104894814 |
LitVar | rs104894814 |
Map | rs104894814 |
PheGenI | rs104894814 |
Biobank | rs104894814 |
1000 genomes | rs104894814 |
hgdp | rs104894814 |
ensembl | rs104894814 |
geneview | rs104894814 |
scholar | rs104894814 |
rs104894814 | |
pharmgkb | rs104894814 |
gwascentral | rs104894814 |
openSNP | rs104894814 |
23andMe | rs104894814 |
SNPshot | rs104894814 |
SNPdbe | rs104894814 |
MSV3d | rs104894814 |
GWAS Ctlg | rs104894814 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894814(G;G) rs104894814(T;T) |
Alt | rs104894814(G;G) rs104894814(T;T) |
Reference | Rs104894814(C;C) |
Significance | Pathogenic |
Disease | X-linked hereditary motor and sensory neuropathy not provided Charcot-Marie-Tooth Neuropathy X |
Variation | info |
Gene | GJB1 |
CLNDBN | X-linked hereditary motor and sensory neuropathy not provided Charcot-Marie-Tooth Neuropathy X |
Reversed | 0 |
HGVS | NC_000023.10:g.70444215C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011180.6, RCV000236998.2, RCV000466155.1, |