rs387907181
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387907181(A;C) |
Make rs387907181(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 52024566 |
Gene | ALG11, UTP14C |
is a | snp |
is | mentioned by |
dbSNP | rs387907181 |
dbSNP (classic) | rs387907181 |
ClinGen | rs387907181 |
ebi | rs387907181 |
HLI | rs387907181 |
Exac | rs387907181 |
Gnomad | rs387907181 |
Varsome | rs387907181 |
LitVar | rs387907181 |
Map | rs387907181 |
PheGenI | rs387907181 |
Biobank | rs387907181 |
1000 genomes | rs387907181 |
hgdp | rs387907181 |
ensembl | rs387907181 |
geneview | rs387907181 |
scholar | rs387907181 |
rs387907181 | |
pharmgkb | rs387907181 |
gwascentral | rs387907181 |
openSNP | rs387907181 |
23andMe | rs387907181 |
SNPshot | rs387907181 |
SNPdbe | rs387907181 |
MSV3d | rs387907181 |
GWAS Ctlg | rs387907181 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907181(C;C) |
Alt | rs387907181(C;C) |
Reference | Rs387907181(A;A) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 1P |
Variation | info |
Gene | ALG11 UTP14C |
CLNDBN | Congenital disorder of glycosylation type 1P |
Reversed | 0 |
HGVS | NC_000013.10:g.52598702A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024340.3, |