rs587777401

Orientation

plus

Stabilized

plus

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

Make rs587777401(C;C)

Make rs587777401(C;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

63654414

Gene

PGM1

is a	snp
is	mentioned by
dbSNP	rs587777401
dbSNP (classic)	rs587777401
ClinGen	rs587777401
ebi	rs587777401
HLI	rs587777401
Exac	rs587777401
Gnomad	rs587777401
Varsome	rs587777401
LitVar	rs587777401
Map	rs587777401
PheGenI	rs587777401
Biobank	rs587777401
1000 genomes	rs587777401
hgdp	rs587777401
ensembl	rs587777401
geneview	rs587777401
scholar	rs587777401
google	rs587777401
pharmgkb	rs587777401
gwascentral	rs587777401
openSNP	rs587777401
23andMe	rs587777401
SNPshot	rs587777401
SNPdbe	rs587777401
MSV3d	rs587777401
GWAS Ctlg	rs587777401

Max Magnitude

0

ClinVar
Risk	rs587777401(C;C)
Alt	rs587777401(C;C)
Reference	Rs587777401(T;T)
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.64120085T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000119799.3,