rs80338708

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
google	rs80338708
pharmgkb	rs80338708
gwascentral	rs80338708
openSNP	rs80338708
23andMe	rs80338708
SNPshot	rs80338708
SNPdbe	rs80338708
MSV3d	rs80338708
GWAS Ctlg	rs80338708

GMAF

0.0004591

Max Magnitude

0

OMIM	601785
Desc
Variant	0011
Related	also

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,