rs28940882

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0
(G;G)	0	common in complete genomics

Make rs28940882(A;A)

Make rs28940882(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23798199

Gene

GALE

is a	snp
is	mentioned by
dbSNP	rs28940882
dbSNP (classic)	rs28940882
ClinGen	rs28940882
ebi	rs28940882
HLI	rs28940882
Exac	rs28940882
Gnomad	rs28940882
Varsome	rs28940882
LitVar	rs28940882
Map	rs28940882
PheGenI	rs28940882
Biobank	rs28940882
1000 genomes	rs28940882
hgdp	rs28940882
ensembl	rs28940882
geneview	rs28940882
scholar	rs28940882
google	rs28940882
pharmgkb	rs28940882
gwascentral	rs28940882
openSNP	rs28940882
23andMe	rs28940882
SNPshot	rs28940882
SNPdbe	rs28940882
MSV3d	rs28940882
GWAS Ctlg	rs28940882

Max Magnitude

0

OMIM	606953
Desc	GALACTOSE EPIMERASE DEFICIENCY
Variant	0003
Related	also

ClinVar
Risk	rs28940882(A;A)
Alt	rs28940882(A;A)
Reference	Rs28940882(G;G)
Significance	Pathogenic
Disease	UDPglucose-4-epimerase deficiency
Variation	info
Gene	GALE
CLNDBN	UDPglucose-4-epimerase deficiency
Reversed	1
HGVS	NC_000001.10:g.24124689C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003862.1,