rs1057516815

Orientation

plus

Stabilized

plus

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

Make rs1057516815(-;-)

Make rs1057516815(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8804777

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1057516815
dbSNP (classic)	rs1057516815
ClinGen	rs1057516815
ebi	rs1057516815
HLI	rs1057516815
Exac	rs1057516815
Gnomad	rs1057516815
Varsome	rs1057516815
LitVar	rs1057516815
Map	rs1057516815
PheGenI	rs1057516815
Biobank	rs1057516815
1000 genomes	rs1057516815
hgdp	rs1057516815
ensembl	rs1057516815
geneview	rs1057516815
scholar	rs1057516815
google	rs1057516815
pharmgkb	rs1057516815
gwascentral	rs1057516815
openSNP	rs1057516815
23andMe	rs1057516815
SNPshot	rs1057516815
SNPdbe	rs1057516815
MSV3d	rs1057516815
GWAS Ctlg	rs1057516815

Max Magnitude

0

ClinVar
Risk	rs1057516815(-;-)
Alt	rs1057516815(-;-)
Reference	Rs1057516815(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.8898634delA
CLNSRC
CLNACC	RCV000409395.1,