rs121908047

Orientation

minus

Stabilized

minus

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

Make rs121908047(A;A)

Make rs121908047(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23798188

Gene

GALE

is a	snp
is	mentioned by
dbSNP	rs121908047
dbSNP (classic)	rs121908047
ClinGen	rs121908047
ebi	rs121908047
HLI	rs121908047
Exac	rs121908047
Gnomad	rs121908047
Varsome	rs121908047
LitVar	rs121908047
Map	rs121908047
PheGenI	rs121908047
Biobank	rs121908047
1000 genomes	rs121908047
hgdp	rs121908047
ensembl	rs121908047
geneview	rs121908047
scholar	rs121908047
google	rs121908047
pharmgkb	rs121908047
gwascentral	rs121908047
openSNP	rs121908047
23andMe	rs121908047
SNPshot	rs121908047
SNPdbe	rs121908047
MSV3d	rs121908047
GWAS Ctlg	rs121908047

Max Magnitude

0

OMIM	606953
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908047(A;A)
Alt	rs121908047(A;A)
Reference	Rs121908047(G;G)
Significance	Other
Disease	Galactose epimerase deficiency UDPglucose-4-epimerase deficiency
Variation	info
Gene	GALE
CLNDBN	Galactose epimerase deficiency, severe UDPglucose-4-epimerase deficiency
Reversed	1
HGVS	NC_000001.10:g.24124678C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003867.3, RCV000020292.1,