rs111033752

Orientation

plus

Stabilized

plus

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

Make rs111033752(C;C)

Make rs111033752(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648446

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033752
dbSNP (classic)	rs111033752
ClinGen	rs111033752
ebi	rs111033752
HLI	rs111033752
Exac	rs111033752
Gnomad	rs111033752
Varsome	rs111033752
LitVar	rs111033752
Map	rs111033752
PheGenI	rs111033752
Biobank	rs111033752
1000 genomes	rs111033752
hgdp	rs111033752
ensembl	rs111033752
geneview	rs111033752
scholar	rs111033752
google	rs111033752
pharmgkb	rs111033752
gwascentral	rs111033752
openSNP	rs111033752
23andMe	rs111033752
SNPshot	rs111033752
SNPdbe	rs111033752
MSV3d	rs111033752
GWAS Ctlg	rs111033752

Max Magnitude

0

ClinVar
Risk	rs111033752(C;C)
Alt	rs111033752(C;C)
Reference	Rs111033752(T;T)
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.34648443T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022180.1,