rs111033743

Orientation

plus

Stabilized

plus

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

Make rs111033743(C;T)

Make rs111033743(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648388

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033743
dbSNP (classic)	rs111033743
ClinGen	rs111033743
ebi	rs111033743
HLI	rs111033743
Exac	rs111033743
Gnomad	rs111033743
Varsome	rs111033743
LitVar	rs111033743
Map	rs111033743
PheGenI	rs111033743
Biobank	rs111033743
1000 genomes	rs111033743
hgdp	rs111033743
ensembl	rs111033743
geneview	rs111033743
scholar	rs111033743
google	rs111033743
pharmgkb	rs111033743
gwascentral	rs111033743
openSNP	rs111033743
23andMe	rs111033743
SNPshot	rs111033743
SNPdbe	rs111033743
MSV3d	rs111033743
GWAS Ctlg	rs111033743

Max Magnitude

0

ClinVar
Risk	rs111033743(T;T)
Alt	rs111033743(T;T)
Reference	Rs111033743(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.34648385C>T
CLNSRC	ARUP GALT
CLNACC	RCV000022166.1,