rs111033784

Orientation

plus

Stabilized

plus

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

Make rs111033784(A;A)

Make rs111033784(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34649427

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033784
dbSNP (classic)	rs111033784
ClinGen	rs111033784
ebi	rs111033784
HLI	rs111033784
Exac	rs111033784
Gnomad	rs111033784
Varsome	rs111033784
LitVar	rs111033784
Map	rs111033784
PheGenI	rs111033784
Biobank	rs111033784
1000 genomes	rs111033784
hgdp	rs111033784
ensembl	rs111033784
geneview	rs111033784
scholar	rs111033784
google	rs111033784
pharmgkb	rs111033784
gwascentral	rs111033784
openSNP	rs111033784
23andMe	rs111033784
SNPshot	rs111033784
SNPdbe	rs111033784
MSV3d	rs111033784
GWAS Ctlg	rs111033784

Max Magnitude

0

ClinVar
Risk	rs111033784(A;A)
Alt	rs111033784(A;A)
Reference	Rs111033784(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.34649424G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022232.1,