rs796065029
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs796065029(-;G) |
Make rs796065029(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 228158453 |
Gene | GJC2 |
is a | snp |
is | mentioned by |
dbSNP | rs796065029 |
dbSNP (classic) | rs796065029 |
ClinGen | rs796065029 |
ebi | rs796065029 |
HLI | rs796065029 |
Exac | rs796065029 |
Gnomad | rs796065029 |
Varsome | rs796065029 |
LitVar | rs796065029 |
Map | rs796065029 |
PheGenI | rs796065029 |
Biobank | rs796065029 |
1000 genomes | rs796065029 |
hgdp | rs796065029 |
ensembl | rs796065029 |
geneview | rs796065029 |
scholar | rs796065029 |
rs796065029 | |
pharmgkb | rs796065029 |
gwascentral | rs796065029 |
openSNP | rs796065029 |
23andMe | rs796065029 |
SNPshot | rs796065029 |
SNPdbe | rs796065029 |
MSV3d | rs796065029 |
GWAS Ctlg | rs796065029 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065029(G;G) |
Alt | rs796065029(G;G) |
Reference | Rs796065029(-;-) |
Significance | Pathogenic |
Disease | Leukodystrophy |
Variation | info |
Gene | GJC2 |
CLNDBN | Leukodystrophy, hypomyelinating, 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.228346154_228346155insG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002158.5, |