rs398123188

Orientation

plus

Stabilized

plus

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

Make rs398123188(C;C)

Make rs398123188(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34649490

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs398123188
dbSNP (classic)	rs398123188
ClinGen	rs398123188
ebi	rs398123188
HLI	rs398123188
Exac	rs398123188
Gnomad	rs398123188
Varsome	rs398123188
LitVar	rs398123188
Map	rs398123188
PheGenI	rs398123188
Biobank	rs398123188
1000 genomes	rs398123188
hgdp	rs398123188
ensembl	rs398123188
geneview	rs398123188
scholar	rs398123188
google	rs398123188
pharmgkb	rs398123188
gwascentral	rs398123188
openSNP	rs398123188
23andMe	rs398123188
SNPshot	rs398123188
SNPdbe	rs398123188
MSV3d	rs398123188
GWAS Ctlg	rs398123188

Max Magnitude

0

ClinVar
Risk	rs398123188(C;C)
Alt	rs398123188(C;C)
Reference	Rs398123188(T;T)
Significance	Probable-Pathogenic
Disease	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation	info
Gene	GALT
CLNDBN	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed	0
HGVS	NC_000009.11:g.34649487T>C
CLNSRC	ClinVar Emory University
CLNACC	RCV000078245.4,