rs387906281
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906281(-;-) |
Make rs387906281(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 99218145 |
Gene | ALG2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906281 |
dbSNP (classic) | rs387906281 |
ClinGen | rs387906281 |
ebi | rs387906281 |
HLI | rs387906281 |
Exac | rs387906281 |
Gnomad | rs387906281 |
Varsome | rs387906281 |
LitVar | rs387906281 |
Map | rs387906281 |
PheGenI | rs387906281 |
Biobank | rs387906281 |
1000 genomes | rs387906281 |
hgdp | rs387906281 |
ensembl | rs387906281 |
geneview | rs387906281 |
scholar | rs387906281 |
rs387906281 | |
pharmgkb | rs387906281 |
gwascentral | rs387906281 |
openSNP | rs387906281 |
23andMe | rs387906281 |
SNPshot | rs387906281 |
SNPdbe | rs387906281 |
MSV3d | rs387906281 |
GWAS Ctlg | rs387906281 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906281(-;-) |
Alt | rs387906281(-;-) |
Reference | Rs387906281(G;G) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 1I |
Variation | info |
Gene | ALG2 |
CLNDBN | Congenital disorder of glycosylation type 1I |
Reversed | 1 |
HGVS | NC_000009.11:g.101980427delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002818.3, |