rs137853859

Orientation

minus

Stabilized

minus

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

Make rs137853859(C;T)

Make rs137853859(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23797718

Gene

GALE

is a	snp
is	mentioned by
dbSNP	rs137853859
dbSNP (classic)	rs137853859
ClinGen	rs137853859
ebi	rs137853859
HLI	rs137853859
Exac	rs137853859
Gnomad	rs137853859
Varsome	rs137853859
LitVar	rs137853859
Map	rs137853859
PheGenI	rs137853859
Biobank	rs137853859
1000 genomes	rs137853859
hgdp	rs137853859
ensembl	rs137853859
geneview	rs137853859
scholar	rs137853859
google	rs137853859
pharmgkb	rs137853859
gwascentral	rs137853859
openSNP	rs137853859
23andMe	rs137853859
SNPshot	rs137853859
SNPdbe	rs137853859
MSV3d	rs137853859
GWAS Ctlg	rs137853859

Max Magnitude

0

ClinVar
Risk	rs137853859(A;A) rs137853859(T;T)
Alt	rs137853859(A;A) rs137853859(T;T)
Reference	Rs137853859(C;C)
Significance	Pathogenic
Disease	UDPglucose-4-epimerase deficiency
Variation	info
Gene	GALE
CLNDBN	UDPglucose-4-epimerase deficiency
Reversed	1
HGVS	NC_000001.10:g.24124208G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020293.2,

OMIM	230350
Desc
Variant
Related	also