rs1057516323

Orientation

plus

Stabilized

plus

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

Make rs1057516323(-;A)

Make rs1057516323(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8811701

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1057516323
dbSNP (classic)	rs1057516323
ClinGen	rs1057516323
ebi	rs1057516323
HLI	rs1057516323
Exac	rs1057516323
Gnomad	rs1057516323
Varsome	rs1057516323
LitVar	rs1057516323
Map	rs1057516323
PheGenI	rs1057516323
Biobank	rs1057516323
1000 genomes	rs1057516323
hgdp	rs1057516323
ensembl	rs1057516323
geneview	rs1057516323
scholar	rs1057516323
google	rs1057516323
pharmgkb	rs1057516323
gwascentral	rs1057516323
openSNP	rs1057516323
23andMe	rs1057516323
SNPshot	rs1057516323
SNPdbe	rs1057516323
MSV3d	rs1057516323
GWAS Ctlg	rs1057516323

Max Magnitude

0

ClinVar
Risk	rs1057516323(A;A)
Alt	rs1057516323(A;A)
Reference	Rs1057516323(-;-)
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.8905558dupA
CLNSRC
CLNACC	RCV000411679.1,