rs28934876
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 |
Make rs28934876(A;G) |
Make rs28934876(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 119100396 |
Gene | DPAGT1, LOC107984397 |
is a | snp |
is | mentioned by |
dbSNP | rs28934876 |
dbSNP (classic) | rs28934876 |
ClinGen | rs28934876 |
ebi | rs28934876 |
HLI | rs28934876 |
Exac | rs28934876 |
Gnomad | rs28934876 |
Varsome | rs28934876 |
LitVar | rs28934876 |
Map | rs28934876 |
PheGenI | rs28934876 |
Biobank | rs28934876 |
1000 genomes | rs28934876 |
hgdp | rs28934876 |
ensembl | rs28934876 |
geneview | rs28934876 |
scholar | rs28934876 |
rs28934876 | |
pharmgkb | rs28934876 |
gwascentral | rs28934876 |
openSNP | rs28934876 |
23andMe | rs28934876 |
SNPshot | rs28934876 |
SNPdbe | rs28934876 |
MSV3d | rs28934876 |
GWAS Ctlg | rs28934876 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28934876(G;G) |
Alt | rs28934876(G;G) |
Reference | Rs28934876(A;A) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 1J |
Variation | info |
Gene | DPAGT1 |
CLNDBN | Congenital disorder of glycosylation type 1J |
Reversed | 1 |
HGVS | NC_000011.9:g.118971106T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013090.23, |