rs28940588

Orientation

minus

Stabilized

minus

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

Make rs28940588(A;A)

Make rs28940588(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184245559

Gene

ALG3

is a	snp
is	mentioned by
dbSNP	rs28940588
dbSNP (classic)	rs28940588
ClinGen	rs28940588
ebi	rs28940588
HLI	rs28940588
Exac	rs28940588
Gnomad	rs28940588
Varsome	rs28940588
LitVar	rs28940588
Map	rs28940588
PheGenI	rs28940588
Biobank	rs28940588
1000 genomes	rs28940588
hgdp	rs28940588
ensembl	rs28940588
geneview	rs28940588
scholar	rs28940588
google	rs28940588
pharmgkb	rs28940588
gwascentral	rs28940588
openSNP	rs28940588
23andMe	rs28940588
SNPshot	rs28940588
SNPdbe	rs28940588
MSV3d	rs28940588
GWAS Ctlg	rs28940588

Max Magnitude

0

OMIM	608750
Desc	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
Variant	0001
Related	also

ClinVar
Risk	rs28940588(A;A)
Alt	rs28940588(A;A)
Reference	Rs28940588(G;G)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1D
Variation	info
Gene	ALG3
CLNDBN	Congenital disorder of glycosylation type 1D
Reversed	1
HGVS	NC_000003.11:g.183963347C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002209.4,