rs1057517110

Orientation

plus

Stabilized

plus

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

Make rs1057517110(C;C)

Make rs1057517110(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8811086

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1057517110
dbSNP (classic)	rs1057517110
ClinGen	rs1057517110
ebi	rs1057517110
HLI	rs1057517110
Exac	rs1057517110
Gnomad	rs1057517110
Varsome	rs1057517110
LitVar	rs1057517110
Map	rs1057517110
PheGenI	rs1057517110
Biobank	rs1057517110
1000 genomes	rs1057517110
hgdp	rs1057517110
ensembl	rs1057517110
geneview	rs1057517110
scholar	rs1057517110
google	rs1057517110
pharmgkb	rs1057517110
gwascentral	rs1057517110
openSNP	rs1057517110
23andMe	rs1057517110
SNPshot	rs1057517110
SNPdbe	rs1057517110
MSV3d	rs1057517110
GWAS Ctlg	rs1057517110

Max Magnitude

0

ClinVar
Risk	rs1057517110(C;C)
Alt	rs1057517110(C;C)
Reference	Rs1057517110(T;T)
Significance	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.8904943T>C
CLNSRC
CLNACC	RCV000409396.1,