rs587777878
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587777878(A;G) |
Make rs587777878(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 71224287 |
Gene | GJB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777878 |
dbSNP (classic) | rs587777878 |
ClinGen | rs587777878 |
ebi | rs587777878 |
HLI | rs587777878 |
Exac | rs587777878 |
Gnomad | rs587777878 |
Varsome | rs587777878 |
LitVar | rs587777878 |
Map | rs587777878 |
PheGenI | rs587777878 |
Biobank | rs587777878 |
1000 genomes | rs587777878 |
hgdp | rs587777878 |
ensembl | rs587777878 |
geneview | rs587777878 |
scholar | rs587777878 |
rs587777878 | |
pharmgkb | rs587777878 |
gwascentral | rs587777878 |
openSNP | rs587777878 |
23andMe | rs587777878 |
SNPshot | rs587777878 |
SNPdbe | rs587777878 |
MSV3d | rs587777878 |
GWAS Ctlg | rs587777878 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777878(G;G) |
Alt | rs587777878(G;G) |
Reference | Rs587777878(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.70444137A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000143794.1, |