rs111033783

Orientation

plus

Stabilized

plus

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

Make rs111033783(A;A)

Make rs111033783(A;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34649060

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033783
dbSNP (classic)	rs111033783
ClinGen	rs111033783
ebi	rs111033783
HLI	rs111033783
Exac	rs111033783
Gnomad	rs111033783
Varsome	rs111033783
LitVar	rs111033783
Map	rs111033783
PheGenI	rs111033783
Biobank	rs111033783
1000 genomes	rs111033783
hgdp	rs111033783
ensembl	rs111033783
geneview	rs111033783
scholar	rs111033783
google	rs111033783
pharmgkb	rs111033783
gwascentral	rs111033783
openSNP	rs111033783
23andMe	rs111033783
SNPshot	rs111033783
SNPdbe	rs111033783
MSV3d	rs111033783
GWAS Ctlg	rs111033783

Max Magnitude

0

ClinVar
Risk	rs111033783(A;A)
Alt	rs111033783(A;A)
Reference	Rs111033783(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.34649057C>A
CLNSRC	ARUP GALT
CLNACC	RCV000022228.1,