rs121908045

Orientation

minus

Stabilized

minus

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

Make rs121908045(C;C)

Make rs121908045(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23797128

Gene

GALE

is a	snp
is	mentioned by
dbSNP	rs121908045
dbSNP (classic)	rs121908045
ClinGen	rs121908045
ebi	rs121908045
HLI	rs121908045
Exac	rs121908045
Gnomad	rs121908045
Varsome	rs121908045
LitVar	rs121908045
Map	rs121908045
PheGenI	rs121908045
Biobank	rs121908045
1000 genomes	rs121908045
hgdp	rs121908045
ensembl	rs121908045
geneview	rs121908045
scholar	rs121908045
google	rs121908045
pharmgkb	rs121908045
gwascentral	rs121908045
openSNP	rs121908045
23andMe	rs121908045
SNPshot	rs121908045
SNPdbe	rs121908045
MSV3d	rs121908045
GWAS Ctlg	rs121908045

Max Magnitude

0

OMIM	606953
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908045(C;C)
Alt	rs121908045(C;C)
Reference	Rs121908045(T;T)
Significance	Pathogenic
Disease	UDPglucose-4-epimerase deficiency
Variation	info
Gene	GALE
CLNDBN	UDPglucose-4-epimerase deficiency
Reversed	1
HGVS	NC_000001.10:g.24123618A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003860.1,