rs769648248

Orientation

plus

Stabilized

plus

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

Make rs769648248(C;T)

Make rs769648248(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8804793

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs769648248
dbSNP (classic)	rs769648248
ClinGen	rs769648248
ebi	rs769648248
HLI	rs769648248
Exac	rs769648248
Gnomad	rs769648248
Varsome	rs769648248
LitVar	rs769648248
Map	rs769648248
PheGenI	rs769648248
Biobank	rs769648248
1000 genomes	rs769648248
hgdp	rs769648248
ensembl	rs769648248
geneview	rs769648248
scholar	rs769648248
google	rs769648248
pharmgkb	rs769648248
gwascentral	rs769648248
openSNP	rs769648248
23andMe	rs769648248
SNPshot	rs769648248
SNPdbe	rs769648248
MSV3d	rs769648248
GWAS Ctlg	rs769648248

Max Magnitude

0

ClinVar
Risk	rs769648248(G;G) rs769648248(T;T)
Alt	rs769648248(G;G) rs769648248(T;T)
Reference	Rs769648248(C;C)
Significance	Probable-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.8898650C>T
CLNSRC
CLNACC	RCV000409367.1,