rs111033716

Orientation

plus

Stabilized

plus

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

Make rs111033716(C;G)

Make rs111033716(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648157

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033716
dbSNP (classic)	rs111033716
ClinGen	rs111033716
ebi	rs111033716
HLI	rs111033716
Exac	rs111033716
Gnomad	rs111033716
Varsome	rs111033716
LitVar	rs111033716
Map	rs111033716
PheGenI	rs111033716
Biobank	rs111033716
1000 genomes	rs111033716
hgdp	rs111033716
ensembl	rs111033716
geneview	rs111033716
scholar	rs111033716
google	rs111033716
pharmgkb	rs111033716
gwascentral	rs111033716
openSNP	rs111033716
23andMe	rs111033716
SNPshot	rs111033716
SNPdbe	rs111033716
MSV3d	rs111033716
GWAS Ctlg	rs111033716

Max Magnitude

0

ClinVar
Risk	rs111033716(G;G)
Alt	rs111033716(G;G)
Reference	Rs111033716(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.34648154C>G
CLNSRC	ARUP GALT
CLNACC	RCV000022145.1,