rs587777496
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587777496(A;G) |
Make rs587777496(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 228149857 |
Gene | GJC2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777496 |
dbSNP (classic) | rs587777496 |
ClinGen | rs587777496 |
ebi | rs587777496 |
HLI | rs587777496 |
Exac | rs587777496 |
Gnomad | rs587777496 |
Varsome | rs587777496 |
LitVar | rs587777496 |
Map | rs587777496 |
PheGenI | rs587777496 |
Biobank | rs587777496 |
1000 genomes | rs587777496 |
hgdp | rs587777496 |
ensembl | rs587777496 |
geneview | rs587777496 |
scholar | rs587777496 |
rs587777496 | |
pharmgkb | rs587777496 |
gwascentral | rs587777496 |
openSNP | rs587777496 |
23andMe | rs587777496 |
SNPshot | rs587777496 |
SNPdbe | rs587777496 |
MSV3d | rs587777496 |
GWAS Ctlg | rs587777496 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777496(G;G) |
Alt | rs587777496(G;G) |
Reference | Rs587777496(A;A) |
Significance | Pathogenic |
Disease | Leukodystrophy |
Variation | info |
Gene | GJC2 |
CLNDBN | Leukodystrophy, hypomyelinating, 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.228337558A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128464.4, |