rs121918371

Orientation

plus

Stabilized

plus

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

Make rs121918371(A;G)

Make rs121918371(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

63629521

Gene

PGM1

is a	snp
is	mentioned by
dbSNP	rs121918371
dbSNP (classic)	rs121918371
ClinGen	rs121918371
ebi	rs121918371
HLI	rs121918371
Exac	rs121918371
Gnomad	rs121918371
Varsome	rs121918371
LitVar	rs121918371
Map	rs121918371
PheGenI	rs121918371
Biobank	rs121918371
1000 genomes	rs121918371
hgdp	rs121918371
ensembl	rs121918371
geneview	rs121918371
scholar	rs121918371
google	rs121918371
pharmgkb	rs121918371
gwascentral	rs121918371
openSNP	rs121918371
23andMe	rs121918371
SNPshot	rs121918371
SNPdbe	rs121918371
MSV3d	rs121918371
GWAS Ctlg	rs121918371

Max Magnitude

0

OMIM	171900
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918371(G;G)
Alt	rs121918371(G;G)
Reference	Rs121918371(A;A)
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.64095192A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014620.27,