rs111033701

Orientation

plus

Stabilized

plus

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

Make rs111033701(C;C)

Make rs111033701(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647906

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033701
dbSNP (classic)	rs111033701
ClinGen	rs111033701
ebi	rs111033701
HLI	rs111033701
Exac	rs111033701
Gnomad	rs111033701
Varsome	rs111033701
LitVar	rs111033701
Map	rs111033701
PheGenI	rs111033701
Biobank	rs111033701
1000 genomes	rs111033701
hgdp	rs111033701
ensembl	rs111033701
geneview	rs111033701
scholar	rs111033701
google	rs111033701
pharmgkb	rs111033701
gwascentral	rs111033701
openSNP	rs111033701
23andMe	rs111033701
SNPshot	rs111033701
SNPdbe	rs111033701
MSV3d	rs111033701
GWAS Ctlg	rs111033701

Max Magnitude

0

ClinVar
Risk	rs111033701(C;C)
Alt	rs111033701(C;C)
Reference	Rs111033701(T;T)
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.34647903T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022116.1,