rs111033736

Orientation

plus

Stabilized

plus

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

Make rs111033736(A;A)

Make rs111033736(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648376

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033736
dbSNP (classic)	rs111033736
ClinGen	rs111033736
ebi	rs111033736
HLI	rs111033736
Exac	rs111033736
Gnomad	rs111033736
Varsome	rs111033736
LitVar	rs111033736
Map	rs111033736
PheGenI	rs111033736
Biobank	rs111033736
1000 genomes	rs111033736
hgdp	rs111033736
ensembl	rs111033736
geneview	rs111033736
scholar	rs111033736
google	rs111033736
pharmgkb	rs111033736
gwascentral	rs111033736
openSNP	rs111033736
23andMe	rs111033736
SNPshot	rs111033736
SNPdbe	rs111033736
MSV3d	rs111033736
GWAS Ctlg	rs111033736

Max Magnitude

0

c.607G>A (p.Glu203Lys); variant of uncertain significance in ClinVar

23andMe name: i5000063

OMIM	606999
Desc
Variant	0014
Related	also

ClinVar
Risk	rs111033736(A;A)
Alt	rs111033736(A;A)
Reference	Rs111033736(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.34648373G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003806.3,