rs137853860

Orientation

minus

Stabilized

minus

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

Make rs137853860(C;T)

Make rs137853860(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23796777

Gene

GALE

is a	snp
is	mentioned by
dbSNP	rs137853860
dbSNP (classic)	rs137853860
ClinGen	rs137853860
ebi	rs137853860
HLI	rs137853860
Exac	rs137853860
Gnomad	rs137853860
Varsome	rs137853860
LitVar	rs137853860
Map	rs137853860
PheGenI	rs137853860
Biobank	rs137853860
1000 genomes	rs137853860
hgdp	rs137853860
ensembl	rs137853860
geneview	rs137853860
scholar	rs137853860
google	rs137853860
pharmgkb	rs137853860
gwascentral	rs137853860
openSNP	rs137853860
23andMe	rs137853860
SNPshot	rs137853860
SNPdbe	rs137853860
MSV3d	rs137853860
GWAS Ctlg	rs137853860

Max Magnitude

0

ClinVar
Risk	rs137853860(T;T)
Alt	rs137853860(T;T)
Reference	Rs137853860(C;C)
Significance	Other
Disease	UDPglucose-4-epimerase deficiency
Variation	info
Gene	GALE
CLNDBN	UDPglucose-4-epimerase deficiency
Reversed	1
HGVS	NC_000001.10:g.24123267G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020294.1,

OMIM	230350
Desc
Variant
Related	also