rs1057516757

Orientation

plus

Stabilized

plus

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

Make rs1057516757(-;G)

Make rs1057516757(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8806405

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1057516757
dbSNP (classic)	rs1057516757
ClinGen	rs1057516757
ebi	rs1057516757
HLI	rs1057516757
Exac	rs1057516757
Gnomad	rs1057516757
Varsome	rs1057516757
LitVar	rs1057516757
Map	rs1057516757
PheGenI	rs1057516757
Biobank	rs1057516757
1000 genomes	rs1057516757
hgdp	rs1057516757
ensembl	rs1057516757
geneview	rs1057516757
scholar	rs1057516757
google	rs1057516757
pharmgkb	rs1057516757
gwascentral	rs1057516757
openSNP	rs1057516757
23andMe	rs1057516757
SNPshot	rs1057516757
SNPdbe	rs1057516757
MSV3d	rs1057516757
GWAS Ctlg	rs1057516757

Max Magnitude

0

ClinVar
Risk	rs1057516757(G;G)
Alt	rs1057516757(G;G)
Reference	Rs1057516757(-;-)
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.8900262dupG
CLNSRC
CLNACC	RCV000408959.1,