rs80338704
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs80338704(A;G) |
Make rs80338704(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 8813030 |
Gene | PMM2 |
is a | snp |
is | mentioned by |
dbSNP | rs80338704 |
dbSNP (classic) | rs80338704 |
ClinGen | rs80338704 |
ebi | rs80338704 |
HLI | rs80338704 |
Exac | rs80338704 |
Gnomad | rs80338704 |
Varsome | rs80338704 |
LitVar | rs80338704 |
Map | rs80338704 |
PheGenI | rs80338704 |
Biobank | rs80338704 |
1000 genomes | rs80338704 |
hgdp | rs80338704 |
ensembl | rs80338704 |
geneview | rs80338704 |
scholar | rs80338704 |
rs80338704 | |
pharmgkb | rs80338704 |
gwascentral | rs80338704 |
openSNP | rs80338704 |
23andMe | rs80338704 |
SNPshot | rs80338704 |
SNPdbe | rs80338704 |
MSV3d | rs80338704 |
GWAS Ctlg | rs80338704 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338704(G;G) |
Alt | rs80338704(G;G) |
Reference | Rs80338704(A;A) |
Significance | Pathogenic |
Disease | Carbohydrate-deficient glycoprotein syndrome type I not provided |
Variation | info |
Gene | PMM2 |
CLNDBN | Carbohydrate-deficient glycoprotein syndrome type I not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.8906887A>G |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008151.4, RCV000153744.2, |
[PMID 9497260] Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.