rs111033654

Orientation

plus

Stabilized

plus

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

Make rs111033654(G;T)

Make rs111033654(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647169

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033654
dbSNP (classic)	rs111033654
ClinGen	rs111033654
ebi	rs111033654
HLI	rs111033654
Exac	rs111033654
Gnomad	rs111033654
Varsome	rs111033654
LitVar	rs111033654
Map	rs111033654
PheGenI	rs111033654
Biobank	rs111033654
1000 genomes	rs111033654
hgdp	rs111033654
ensembl	rs111033654
geneview	rs111033654
scholar	rs111033654
google	rs111033654
pharmgkb	rs111033654
gwascentral	rs111033654
openSNP	rs111033654
23andMe	rs111033654
SNPshot	rs111033654
SNPdbe	rs111033654
MSV3d	rs111033654
GWAS Ctlg	rs111033654

Max Magnitude

0

ClinVar
Risk	rs111033654(T;T)
Alt	rs111033654(T;T)
Reference	Rs111033654(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.34647166G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022063.1,