rs587777404

Orientation

plus

Stabilized

plus

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

Make rs587777404(G;T)

Make rs587777404(T;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

63634933

Gene

PGM1

is a	snp
is	mentioned by
dbSNP	rs587777404
dbSNP (classic)	rs587777404
ClinGen	rs587777404
ebi	rs587777404
HLI	rs587777404
Exac	rs587777404
Gnomad	rs587777404
Varsome	rs587777404
LitVar	rs587777404
Map	rs587777404
PheGenI	rs587777404
Biobank	rs587777404
1000 genomes	rs587777404
hgdp	rs587777404
ensembl	rs587777404
geneview	rs587777404
scholar	rs587777404
google	rs587777404
pharmgkb	rs587777404
gwascentral	rs587777404
openSNP	rs587777404
23andMe	rs587777404
SNPshot	rs587777404
SNPdbe	rs587777404
MSV3d	rs587777404
GWAS Ctlg	rs587777404

Max Magnitude

0

ClinVar
Risk	rs587777404(T;T)
Alt	rs587777404(T;T)
Reference	Rs587777404(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.64100604G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000119802.3,