rs398123309

Orientation

plus

Stabilized

plus

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

Make rs398123309(C;C)

Make rs398123309(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8813090

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs398123309
dbSNP (classic)	rs398123309
ClinGen	rs398123309
ebi	rs398123309
HLI	rs398123309
Exac	rs398123309
Gnomad	rs398123309
Varsome	rs398123309
LitVar	rs398123309
Map	rs398123309
PheGenI	rs398123309
Biobank	rs398123309
1000 genomes	rs398123309
hgdp	rs398123309
ensembl	rs398123309
geneview	rs398123309
scholar	rs398123309
google	rs398123309
pharmgkb	rs398123309
gwascentral	rs398123309
openSNP	rs398123309
23andMe	rs398123309
SNPshot	rs398123309
SNPdbe	rs398123309
MSV3d	rs398123309
GWAS Ctlg	rs398123309

Max Magnitude

0

ClinVar
Risk	rs398123309(A;A) rs398123309(C;C)
Alt	rs398123309(A;A) rs398123309(C;C)
Reference	Rs398123309(G;G)
Significance	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.8906947G>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078594.3, RCV000179744.1,