rs137853861

Orientation

minus

Stabilized

minus

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

Make rs137853861(A;A)

Make rs137853861(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23796234

Gene

GALE

is a	snp
is	mentioned by
dbSNP	rs137853861
dbSNP (classic)	rs137853861
ClinGen	rs137853861
ebi	rs137853861
HLI	rs137853861
Exac	rs137853861
Gnomad	rs137853861
Varsome	rs137853861
LitVar	rs137853861
Map	rs137853861
PheGenI	rs137853861
Biobank	rs137853861
1000 genomes	rs137853861
hgdp	rs137853861
ensembl	rs137853861
geneview	rs137853861
scholar	rs137853861
google	rs137853861
pharmgkb	rs137853861
gwascentral	rs137853861
openSNP	rs137853861
23andMe	rs137853861
SNPshot	rs137853861
SNPdbe	rs137853861
MSV3d	rs137853861
GWAS Ctlg	rs137853861

Max Magnitude

0

ClinVar
Risk	rs137853861(A;A)
Alt	rs137853861(A;A)
Reference	Rs137853861(G;G)
Significance	Pathogenic
Disease	UDPglucose-4-epimerase deficiency
Variation	info
Gene	GALE
CLNDBN	UDPglucose-4-epimerase deficiency
Reversed	1
HGVS	NC_000001.10:g.24122724C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020295.1,

OMIM	230350
Desc
Variant
Related	also