rs111033798

Orientation

plus

Stabilized

plus

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

Make rs111033798(C;T)

Make rs111033798(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34649475

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033798
dbSNP (classic)	rs111033798
ClinGen	rs111033798
ebi	rs111033798
HLI	rs111033798
Exac	rs111033798
Gnomad	rs111033798
Varsome	rs111033798
LitVar	rs111033798
Map	rs111033798
PheGenI	rs111033798
Biobank	rs111033798
1000 genomes	rs111033798
hgdp	rs111033798
ensembl	rs111033798
geneview	rs111033798
scholar	rs111033798
google	rs111033798
pharmgkb	rs111033798
gwascentral	rs111033798
openSNP	rs111033798
23andMe	rs111033798
SNPshot	rs111033798
SNPdbe	rs111033798
MSV3d	rs111033798
GWAS Ctlg	rs111033798

Max Magnitude

0

ClinVar
Risk	rs111033798(T;T)
Alt	rs111033798(T;T)
Reference	Rs111033798(C;C)
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.34649472C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022248.1,