rs398122912

Orientation

plus

Stabilized

plus

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

Make rs398122912(C;C)

Make rs398122912(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

63629539

Gene

PGM1

is a	snp
is	mentioned by
dbSNP	rs398122912
dbSNP (classic)	rs398122912
ClinGen	rs398122912
ebi	rs398122912
HLI	rs398122912
Exac	rs398122912
Gnomad	rs398122912
Varsome	rs398122912
LitVar	rs398122912
Map	rs398122912
PheGenI	rs398122912
Biobank	rs398122912
1000 genomes	rs398122912
hgdp	rs398122912
ensembl	rs398122912
geneview	rs398122912
scholar	rs398122912
google	rs398122912
pharmgkb	rs398122912
gwascentral	rs398122912
openSNP	rs398122912
23andMe	rs398122912
SNPshot	rs398122912
SNPdbe	rs398122912
MSV3d	rs398122912
GWAS Ctlg	rs398122912

Max Magnitude

0

ClinVar
Risk	rs398122912(C;C) rs398122912(T;T)
Alt	rs398122912(C;C) rs398122912(T;T)
Reference	Rs398122912(G;G)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1t
Variation	info
Gene	PGM1
CLNDBN	Congenital disorder of glycosylation type 1t
Reversed	0
HGVS	NC_000001.10:g.64095210G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032990.25,