rs111033754

Orientation

plus

Stabilized

plus

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

Make rs111033754(A;A)

Make rs111033754(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648766

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033754
dbSNP (classic)	rs111033754
ClinGen	rs111033754
ebi	rs111033754
HLI	rs111033754
Exac	rs111033754
Gnomad	rs111033754
Varsome	rs111033754
LitVar	rs111033754
Map	rs111033754
PheGenI	rs111033754
Biobank	rs111033754
1000 genomes	rs111033754
hgdp	rs111033754
ensembl	rs111033754
geneview	rs111033754
scholar	rs111033754
google	rs111033754
pharmgkb	rs111033754
gwascentral	rs111033754
openSNP	rs111033754
23andMe	rs111033754
SNPshot	rs111033754
SNPdbe	rs111033754
MSV3d	rs111033754
GWAS Ctlg	rs111033754

Max Magnitude

0

ClinVar
Risk	rs111033754(A;A)
Alt	rs111033754(A;A)
Reference	Rs111033754(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.34648763G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022185.1,