rs28940883

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in complete genomics
(T;T)	0

Make rs28940883(A;G)

Make rs28940883(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23798160

Gene

GALE

is a	snp
is	mentioned by
dbSNP	rs28940883
dbSNP (classic)	rs28940883
ClinGen	rs28940883
ebi	rs28940883
HLI	rs28940883
Exac	rs28940883
Gnomad	rs28940883
Varsome	rs28940883
LitVar	rs28940883
Map	rs28940883
PheGenI	rs28940883
Biobank	rs28940883
1000 genomes	rs28940883
hgdp	rs28940883
ensembl	rs28940883
geneview	rs28940883
scholar	rs28940883
google	rs28940883
pharmgkb	rs28940883
gwascentral	rs28940883
openSNP	rs28940883
23andMe	rs28940883
SNPshot	rs28940883
SNPdbe	rs28940883
MSV3d	rs28940883
GWAS Ctlg	rs28940883

Max Magnitude

0

OMIM	606953
Desc	GALACTOSE EPIMERASE DEFICIENCY
Variant	0004
Related	also

ClinVar
Risk	rs28940883(G;G)
Alt	rs28940883(G;G)
Reference	Rs28940883(A;A)
Significance	Pathogenic
Disease	UDPglucose-4-epimerase deficiency
Variation	info
Gene	GALE
CLNDBN	UDPglucose-4-epimerase deficiency
Reversed	1
HGVS	NC_000001.10:g.24124650T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003863.2,