rs148032587

Orientation

plus

Stabilized

plus

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

Make rs148032587(A;A)

Make rs148032587(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

8811173

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs148032587
dbSNP (classic)	rs148032587
ClinGen	rs148032587
ebi	rs148032587
HLI	rs148032587
Exac	rs148032587
Gnomad	rs148032587
Varsome	rs148032587
LitVar	rs148032587
Map	rs148032587
PheGenI	rs148032587
Biobank	rs148032587
1000 genomes	rs148032587
hgdp	rs148032587
ensembl	rs148032587
geneview	rs148032587
scholar	rs148032587
google	rs148032587
pharmgkb	rs148032587
gwascentral	rs148032587
openSNP	rs148032587
23andMe	rs148032587
SNPshot	rs148032587
SNPdbe	rs148032587
MSV3d	rs148032587
GWAS Ctlg	rs148032587

Max Magnitude

0

ClinVar
Risk	rs148032587(A;A)
Alt	rs148032587(A;A)
Reference	Rs148032587(G;G)
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.8905030G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000178754.1,