rs111033804

Orientation

plus

Stabilized

plus

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

Make rs111033804(C;T)

Make rs111033804(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34649494

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033804
dbSNP (classic)	rs111033804
ClinGen	rs111033804
ebi	rs111033804
HLI	rs111033804
Exac	rs111033804
Gnomad	rs111033804
Varsome	rs111033804
LitVar	rs111033804
Map	rs111033804
PheGenI	rs111033804
Biobank	rs111033804
1000 genomes	rs111033804
hgdp	rs111033804
ensembl	rs111033804
geneview	rs111033804
scholar	rs111033804
google	rs111033804
pharmgkb	rs111033804
gwascentral	rs111033804
openSNP	rs111033804
23andMe	rs111033804
SNPshot	rs111033804
SNPdbe	rs111033804
MSV3d	rs111033804
GWAS Ctlg	rs111033804

Max Magnitude

0

ClinVar
Risk	rs111033804(T;T)
Alt	rs111033804(T;T)
Reference	Rs111033804(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.34649491C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022256.1,