rs80338708
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80338708(C;T) |
Make rs80338708(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 8847794 |
Gene | PMM2 |
is a | snp |
is | mentioned by |
dbSNP | rs80338708 |
dbSNP (classic) | rs80338708 |
ClinGen | rs80338708 |
ebi | rs80338708 |
HLI | rs80338708 |
Exac | rs80338708 |
Gnomad | rs80338708 |
Varsome | rs80338708 |
LitVar | rs80338708 |
Map | rs80338708 |
PheGenI | rs80338708 |
Biobank | rs80338708 |
1000 genomes | rs80338708 |
hgdp | rs80338708 |
ensembl | rs80338708 |
geneview | rs80338708 |
scholar | rs80338708 |
rs80338708 | |
pharmgkb | rs80338708 |
gwascentral | rs80338708 |
openSNP | rs80338708 |
23andMe | rs80338708 |
SNPshot | rs80338708 |
SNPdbe | rs80338708 |
MSV3d | rs80338708 |
GWAS Ctlg | rs80338708 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338708(G;G) rs80338708(T;T) |
Alt | rs80338708(G;G) rs80338708(T;T) |
Reference | Rs80338708(C;C) |
Significance | Other |
Disease | Carbohydrate-deficient glycoprotein syndrome type I not provided Congenital disorder of glycosylation |
Variation | info |
Gene | PMM2 |
CLNDBN | Carbohydrate-deficient glycoprotein syndrome type I not provided Congenital disorder of glycosylation |
Reversed | 0 |
HGVS | NC_000016.9:g.8941651C>G; NC_000016.9:g.8941651C>T |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008155.4, RCV000078598.3, RCV000399485.1, RCV000020237.4, |