rs111033753

Orientation

plus

Stabilized

plus

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

Make rs111033753(G;T)

Make rs111033753(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648456

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033753
dbSNP (classic)	rs111033753
ClinGen	rs111033753
ebi	rs111033753
HLI	rs111033753
Exac	rs111033753
Gnomad	rs111033753
Varsome	rs111033753
LitVar	rs111033753
Map	rs111033753
PheGenI	rs111033753
Biobank	rs111033753
1000 genomes	rs111033753
hgdp	rs111033753
ensembl	rs111033753
geneview	rs111033753
scholar	rs111033753
google	rs111033753
pharmgkb	rs111033753
gwascentral	rs111033753
openSNP	rs111033753
23andMe	rs111033753
SNPshot	rs111033753
SNPdbe	rs111033753
MSV3d	rs111033753
GWAS Ctlg	rs111033753

Max Magnitude

0

ClinVar
Risk	rs111033753(T;T)
Alt	rs111033753(T;T)
Reference	Rs111033753(G;G)
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.34648453G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022182.1,