rs1057516376

Orientation

plus

Stabilized

plus

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

Make rs1057516376(-;-)

Make rs1057516376(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8811145

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1057516376
dbSNP (classic)	rs1057516376
ClinGen	rs1057516376
ebi	rs1057516376
HLI	rs1057516376
Exac	rs1057516376
Gnomad	rs1057516376
Varsome	rs1057516376
LitVar	rs1057516376
Map	rs1057516376
PheGenI	rs1057516376
Biobank	rs1057516376
1000 genomes	rs1057516376
hgdp	rs1057516376
ensembl	rs1057516376
geneview	rs1057516376
scholar	rs1057516376
google	rs1057516376
pharmgkb	rs1057516376
gwascentral	rs1057516376
openSNP	rs1057516376
23andMe	rs1057516376
SNPshot	rs1057516376
SNPdbe	rs1057516376
MSV3d	rs1057516376
GWAS Ctlg	rs1057516376

Max Magnitude

0

ClinVar
Risk	rs1057516376(-;-)
Alt	rs1057516376(-;-)
Reference	Rs1057516376(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.8905002delA
CLNSRC
CLNACC	RCV000408989.1,