rs398123310

Orientation

plus

Stabilized

plus

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

Make rs398123310(C;G)

Make rs398123310(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8847736

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs398123310
dbSNP (classic)	rs398123310
ClinGen	rs398123310
ebi	rs398123310
HLI	rs398123310
Exac	rs398123310
Gnomad	rs398123310
Varsome	rs398123310
LitVar	rs398123310
Map	rs398123310
PheGenI	rs398123310
Biobank	rs398123310
1000 genomes	rs398123310
hgdp	rs398123310
ensembl	rs398123310
geneview	rs398123310
scholar	rs398123310
google	rs398123310
pharmgkb	rs398123310
gwascentral	rs398123310
openSNP	rs398123310
23andMe	rs398123310
SNPshot	rs398123310
SNPdbe	rs398123310
MSV3d	rs398123310
GWAS Ctlg	rs398123310

Max Magnitude

0

ClinVar
Risk	rs398123310(G;G)
Alt	rs398123310(G;G)
Reference	Rs398123310(C;C)
Significance	Probable-Pathogenic
Disease	not provided Carbohydrate-deficient glycoprotein syndrome type I
Variation	info
Gene	PMM2
CLNDBN	not provided Carbohydrate-deficient glycoprotein syndrome type I
Reversed	0
HGVS	NC_000016.9:g.8941593C>G
CLNSRC	ClinVar Emory University
CLNACC	RCV000078595.3, RCV000180133.1,