rs1057516886

Orientation

plus

Stabilized

plus

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

Make rs1057516886(A;A)

Make rs1057516886(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8813027

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1057516886
dbSNP (classic)	rs1057516886
ClinGen	rs1057516886
ebi	rs1057516886
HLI	rs1057516886
Exac	rs1057516886
Gnomad	rs1057516886
Varsome	rs1057516886
LitVar	rs1057516886
Map	rs1057516886
PheGenI	rs1057516886
Biobank	rs1057516886
1000 genomes	rs1057516886
hgdp	rs1057516886
ensembl	rs1057516886
geneview	rs1057516886
scholar	rs1057516886
google	rs1057516886
pharmgkb	rs1057516886
gwascentral	rs1057516886
openSNP	rs1057516886
23andMe	rs1057516886
SNPshot	rs1057516886
SNPdbe	rs1057516886
MSV3d	rs1057516886
GWAS Ctlg	rs1057516886

Max Magnitude

0

ClinVar
Risk	rs1057516886(A;A)
Alt	rs1057516886(A;A)
Reference	Rs1057516886(G;G)
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.8906884G>A
CLNSRC
CLNACC	RCV000410575.1,