rs387906277
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906277(-;-) |
Make rs387906277(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 78121130 |
Gene | ALG8 |
is a | snp |
is | mentioned by |
dbSNP | rs387906277 |
dbSNP (classic) | rs387906277 |
ClinGen | rs387906277 |
ebi | rs387906277 |
HLI | rs387906277 |
Exac | rs387906277 |
Gnomad | rs387906277 |
Varsome | rs387906277 |
LitVar | rs387906277 |
Map | rs387906277 |
PheGenI | rs387906277 |
Biobank | rs387906277 |
1000 genomes | rs387906277 |
hgdp | rs387906277 |
ensembl | rs387906277 |
geneview | rs387906277 |
scholar | rs387906277 |
rs387906277 | |
pharmgkb | rs387906277 |
gwascentral | rs387906277 |
openSNP | rs387906277 |
23andMe | rs387906277 |
SNPshot | rs387906277 |
SNPdbe | rs387906277 |
MSV3d | rs387906277 |
GWAS Ctlg | rs387906277 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906277(-;-) |
Alt | rs387906277(-;-) |
Reference | Rs387906277(C;C) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 1H |
Variation | info |
Gene | ALG8 |
CLNDBN | Congenital disorder of glycosylation type 1H |
Reversed | 1 |
HGVS | NC_000011.9:g.77832176delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002667.3, |