rs80338704

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
google	rs80338704
pharmgkb	rs80338704
gwascentral	rs80338704
openSNP	rs80338704
23andMe	rs80338704
SNPshot	rs80338704
SNPdbe	rs80338704
MSV3d	rs80338704
GWAS Ctlg	rs80338704

Max Magnitude

0

OMIM	601785
Desc
Variant	0007
Related	also

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.