rs80338703

Orientation

plus

Stabilized

plus

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

Make rs80338703(A;A)

Make rs80338703(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8811146

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs80338703
dbSNP (classic)	rs80338703
ClinGen	rs80338703
ebi	rs80338703
HLI	rs80338703
Exac	rs80338703
Gnomad	rs80338703
Varsome	rs80338703
LitVar	rs80338703
Map	rs80338703
PheGenI	rs80338703
Biobank	rs80338703
1000 genomes	rs80338703
hgdp	rs80338703
ensembl	rs80338703
geneview	rs80338703
scholar	rs80338703
google	rs80338703
pharmgkb	rs80338703
gwascentral	rs80338703
openSNP	rs80338703
23andMe	rs80338703
SNPshot	rs80338703
SNPdbe	rs80338703
MSV3d	rs80338703
GWAS Ctlg	rs80338703

Max Magnitude

0

ClinVar
Risk	rs80338703(A;A)
Alt	rs80338703(A;A)
Reference	Rs80338703(G;G)
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.8905003G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020235.2, RCV000479820.1,