rs367543266

Orientation

plus

Stabilized

plus

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

Make rs367543266(C;T)

Make rs367543266(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34649466

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs367543266
dbSNP (classic)	rs367543266
ClinGen	rs367543266
ebi	rs367543266
HLI	rs367543266
Exac	rs367543266
Gnomad	rs367543266
Varsome	rs367543266
LitVar	rs367543266
Map	rs367543266
PheGenI	rs367543266
Biobank	rs367543266
1000 genomes	rs367543266
hgdp	rs367543266
ensembl	rs367543266
geneview	rs367543266
scholar	rs367543266
google	rs367543266
pharmgkb	rs367543266
gwascentral	rs367543266
openSNP	rs367543266
23andMe	rs367543266
SNPshot	rs367543266
SNPdbe	rs367543266
MSV3d	rs367543266
GWAS Ctlg	rs367543266

Max Magnitude

0

ClinVar
Risk	rs367543266(T;T)
Alt	rs367543266(T;T)
Reference	Rs367543266(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.34649463C>T
CLNSRC	ARUP GALT
CLNACC	RCV000022244.1,

[PMID 12595586] Verbal dyspraxia and galactosemia.