rs1057517117

Orientation

plus

Stabilized

plus

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

Make rs1057517117(A;A)

Make rs1057517117(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8806408

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1057517117
dbSNP (classic)	rs1057517117
ClinGen	rs1057517117
ebi	rs1057517117
HLI	rs1057517117
Exac	rs1057517117
Gnomad	rs1057517117
Varsome	rs1057517117
LitVar	rs1057517117
Map	rs1057517117
PheGenI	rs1057517117
Biobank	rs1057517117
1000 genomes	rs1057517117
hgdp	rs1057517117
ensembl	rs1057517117
geneview	rs1057517117
scholar	rs1057517117
google	rs1057517117
pharmgkb	rs1057517117
gwascentral	rs1057517117
openSNP	rs1057517117
23andMe	rs1057517117
SNPshot	rs1057517117
SNPdbe	rs1057517117
MSV3d	rs1057517117
GWAS Ctlg	rs1057517117

Max Magnitude

0

ClinVar
Risk	rs1057517117(A;A)
Alt	rs1057517117(A;A)
Reference	Rs1057517117(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.8900265G>A
CLNSRC
CLNACC	RCV000409924.1,