rs28940885

Orientation

minus

Stabilized

minus

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

Make rs28940885(A;A)

Make rs28940885(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23796183

Gene

GALE

is a	snp
is	mentioned by
dbSNP	rs28940885
dbSNP (classic)	rs28940885
ClinGen	rs28940885
ebi	rs28940885
HLI	rs28940885
Exac	rs28940885
Gnomad	rs28940885
Varsome	rs28940885
LitVar	rs28940885
Map	rs28940885
PheGenI	rs28940885
Biobank	rs28940885
1000 genomes	rs28940885
hgdp	rs28940885
ensembl	rs28940885
geneview	rs28940885
scholar	rs28940885
google	rs28940885
pharmgkb	rs28940885
gwascentral	rs28940885
openSNP	rs28940885
23andMe	rs28940885
SNPshot	rs28940885
SNPdbe	rs28940885
MSV3d	rs28940885
GWAS Ctlg	rs28940885

GMAF

0.001377

Max Magnitude

0

OMIM	606953
Desc	GALACTOSE EPIMERASE DEFICIENCY
Variant	0007
Related	also

ClinVar
Risk	rs28940885(A;A)
Alt	rs28940885(A;A)
Reference	Rs28940885(G;G)
Significance	Other
Disease	UDPglucose-4-epimerase deficiency not provided
Variation	info
Gene	GALE
CLNDBN	UDPglucose-4-epimerase deficiency not provided
Reversed	1
HGVS	NC_000001.10:g.24122673C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003866.1, RCV000078697.5,