rs121908046

Orientation

minus

Stabilized

minus

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

Make rs121908046(A;G)

Make rs121908046(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23798907

Gene

GALE

is a	snp
is	mentioned by
dbSNP	rs121908046
dbSNP (classic)	rs121908046
ClinGen	rs121908046
ebi	rs121908046
HLI	rs121908046
Exac	rs121908046
Gnomad	rs121908046
Varsome	rs121908046
LitVar	rs121908046
Map	rs121908046
PheGenI	rs121908046
Biobank	rs121908046
1000 genomes	rs121908046
hgdp	rs121908046
ensembl	rs121908046
geneview	rs121908046
scholar	rs121908046
google	rs121908046
pharmgkb	rs121908046
gwascentral	rs121908046
openSNP	rs121908046
23andMe	rs121908046
SNPshot	rs121908046
SNPdbe	rs121908046
MSV3d	rs121908046
GWAS Ctlg	rs121908046

Max Magnitude

0

OMIM	606953
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908046(G;G)
Alt	rs121908046(G;G)
Reference	Rs121908046(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.24125397T>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003861.6,