rs111033794

Orientation

plus

Stabilized

plus

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

Make rs111033794(C;T)

Make rs111033794(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34649479

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033794
dbSNP (classic)	rs111033794
ClinGen	rs111033794
ebi	rs111033794
HLI	rs111033794
Exac	rs111033794
Gnomad	rs111033794
Varsome	rs111033794
LitVar	rs111033794
Map	rs111033794
PheGenI	rs111033794
Biobank	rs111033794
1000 genomes	rs111033794
hgdp	rs111033794
ensembl	rs111033794
geneview	rs111033794
scholar	rs111033794
google	rs111033794
pharmgkb	rs111033794
gwascentral	rs111033794
openSNP	rs111033794
23andMe	rs111033794
SNPshot	rs111033794
SNPdbe	rs111033794
MSV3d	rs111033794
GWAS Ctlg	rs111033794

Max Magnitude

0

ClinVar
Risk	rs111033794(T;T)
Alt	rs111033794(T;T)
Reference	Rs111033794(C;C)
Significance	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.34649476C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022250.1,