rs111033830

Orientation

plus

Stabilized

plus

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

Make rs111033830(A;G)

Make rs111033830(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648343

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033830
dbSNP (classic)	rs111033830
ClinGen	rs111033830
ebi	rs111033830
HLI	rs111033830
Exac	rs111033830
Gnomad	rs111033830
Varsome	rs111033830
LitVar	rs111033830
Map	rs111033830
PheGenI	rs111033830
Biobank	rs111033830
1000 genomes	rs111033830
hgdp	rs111033830
ensembl	rs111033830
geneview	rs111033830
scholar	rs111033830
google	rs111033830
pharmgkb	rs111033830
gwascentral	rs111033830
openSNP	rs111033830
23andMe	rs111033830
SNPshot	rs111033830
SNPdbe	rs111033830
MSV3d	rs111033830
GWAS Ctlg	rs111033830

Max Magnitude

0

ClinVar
Risk	rs111033830(G;G)
Alt	rs111033830(G;G)
Reference	Rs111033830(A;A)
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.34648340A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022155.1,