rs80338702

Orientation

plus

Stabilized

plus

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

Make rs80338702(C;C)

Make rs80338702(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8811126

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs80338702
dbSNP (classic)	rs80338702
ClinGen	rs80338702
ebi	rs80338702
HLI	rs80338702
Exac	rs80338702
Gnomad	rs80338702
Varsome	rs80338702
LitVar	rs80338702
Map	rs80338702
PheGenI	rs80338702
Biobank	rs80338702
1000 genomes	rs80338702
hgdp	rs80338702
ensembl	rs80338702
geneview	rs80338702
scholar	rs80338702
google	rs80338702
pharmgkb	rs80338702
gwascentral	rs80338702
openSNP	rs80338702
23andMe	rs80338702
SNPshot	rs80338702
SNPdbe	rs80338702
MSV3d	rs80338702
GWAS Ctlg	rs80338702

Max Magnitude

0

OMIM	601785
Desc
Variant	0013
Related	also

ClinVar
Risk	rs80338702(C;C)
Alt	rs80338702(C;C)
Reference	Rs80338702(T;T)
Significance	Other
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.8904983T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008157.5,

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