rs80338706

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs80338706(C;G)

Make rs80338706(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8847761

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs80338706
dbSNP (classic)	rs80338706
ClinGen	rs80338706
ebi	rs80338706
HLI	rs80338706
Exac	rs80338706
Gnomad	rs80338706
Varsome	rs80338706
LitVar	rs80338706
Map	rs80338706
PheGenI	rs80338706
Biobank	rs80338706
1000 genomes	rs80338706
hgdp	rs80338706
ensembl	rs80338706
geneview	rs80338706
scholar	rs80338706
google	rs80338706
pharmgkb	rs80338706
gwascentral	rs80338706
openSNP	rs80338706
23andMe	rs80338706
SNPshot	rs80338706
SNPdbe	rs80338706
MSV3d	rs80338706
GWAS Ctlg	rs80338706

Max Magnitude

0

OMIM	601785
Desc
Variant	0017
Related	also

ClinVar
Risk	rs80338706(G;G)
Alt	rs80338706(G;G)
Reference	Rs80338706(C;C)
Significance	Pathogenic
Disease	Carbohydrate-deficient glycoprotein syndrome type I
Variation	info
Gene	PMM2
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type I
Reversed	0
HGVS	NC_000016.9:g.8941618C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008161.3,

[PMID 10922383] Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.