rs3180383

Orientation

plus

Stabilized

plus

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

Make rs3180383(A;A)

Make rs3180383(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23796202

Gene

GALE

is a	snp
is	mentioned by
dbSNP	rs3180383
dbSNP (classic)	rs3180383
ClinGen	rs3180383
ebi	rs3180383
HLI	rs3180383
Exac	rs3180383
Gnomad	rs3180383
Varsome	rs3180383
LitVar	rs3180383
Map	rs3180383
PheGenI	rs3180383
Biobank	rs3180383
1000 genomes	rs3180383
hgdp	rs3180383
ensembl	rs3180383
geneview	rs3180383
scholar	rs3180383
google	rs3180383
pharmgkb	rs3180383
gwascentral	rs3180383
openSNP	rs3180383
23andMe	rs3180383
SNPshot	rs3180383
SNPdbe	rs3180383
MSV3d	rs3180383
GWAS Ctlg	rs3180383

Max Magnitude

0

OMIM	606953
Desc	GALACTOSE EPIMERASE DEFICIENCY
Variant	0006
Related	also

ClinVar
Risk	rs3180383(A;A) rs3180383(T;T)
Alt	rs3180383(A;A) rs3180383(T;T)
Reference	Rs3180383(G;G)
Significance	Pathogenic
Disease	UDPglucose-4-epimerase deficiency
Variation	info
Gene	GALE
CLNDBN	UDPglucose-4-epimerase deficiency
Reversed	0
HGVS	NC_000001.10:g.24122692G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003865.2,