rs1057517183

Orientation

plus

Stabilized

plus

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

Make rs1057517183(A;A)

Make rs1057517183(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8813107

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1057517183
dbSNP (classic)	rs1057517183
ClinGen	rs1057517183
ebi	rs1057517183
HLI	rs1057517183
Exac	rs1057517183
Gnomad	rs1057517183
Varsome	rs1057517183
LitVar	rs1057517183
Map	rs1057517183
PheGenI	rs1057517183
Biobank	rs1057517183
1000 genomes	rs1057517183
hgdp	rs1057517183
ensembl	rs1057517183
geneview	rs1057517183
scholar	rs1057517183
google	rs1057517183
pharmgkb	rs1057517183
gwascentral	rs1057517183
openSNP	rs1057517183
23andMe	rs1057517183
SNPshot	rs1057517183
SNPdbe	rs1057517183
MSV3d	rs1057517183
GWAS Ctlg	rs1057517183

Max Magnitude

0

ClinVar
Risk	rs1057517183(A;A)
Alt	rs1057517183(A;A)
Reference	Rs1057517183(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.8906964G>A
CLNSRC
CLNACC	RCV000409903.1,