rs199562225

Orientation

plus

Stabilized

plus

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

Make rs199562225(C;T)

Make rs199562225(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8813047

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs199562225
dbSNP (classic)	rs199562225
ClinGen	rs199562225
ebi	rs199562225
HLI	rs199562225
Exac	rs199562225
Gnomad	rs199562225
Varsome	rs199562225
LitVar	rs199562225
Map	rs199562225
PheGenI	rs199562225
Biobank	rs199562225
1000 genomes	rs199562225
hgdp	rs199562225
ensembl	rs199562225
geneview	rs199562225
scholar	rs199562225
google	rs199562225
pharmgkb	rs199562225
gwascentral	rs199562225
openSNP	rs199562225
23andMe	rs199562225
SNPshot	rs199562225
SNPdbe	rs199562225
MSV3d	rs199562225
GWAS Ctlg	rs199562225

Max Magnitude

0

ClinVar
Risk	rs199562225(T;T)
Alt	rs199562225(T;T)
Reference	Rs199562225(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.8906904C>T
CLNSRC
CLNACC	RCV000490462.1,