rs1057516372

Orientation

plus

Stabilized

plus

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

Make rs1057516372(A;G)

Make rs1057516372(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8806314

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1057516372
dbSNP (classic)	rs1057516372
ClinGen	rs1057516372
ebi	rs1057516372
HLI	rs1057516372
Exac	rs1057516372
Gnomad	rs1057516372
Varsome	rs1057516372
LitVar	rs1057516372
Map	rs1057516372
PheGenI	rs1057516372
Biobank	rs1057516372
1000 genomes	rs1057516372
hgdp	rs1057516372
ensembl	rs1057516372
geneview	rs1057516372
scholar	rs1057516372
google	rs1057516372
pharmgkb	rs1057516372
gwascentral	rs1057516372
openSNP	rs1057516372
23andMe	rs1057516372
SNPshot	rs1057516372
SNPdbe	rs1057516372
MSV3d	rs1057516372
GWAS Ctlg	rs1057516372

Max Magnitude

0

ClinVar
Risk	rs1057516372(G;G)
Alt	rs1057516372(G;G)
Reference	Rs1057516372(A;A)
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.8900171A>G
CLNSRC
CLNACC	RCV000410134.1,