rs111033636

Orientation

plus

Stabilized

plus

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

Make rs111033636(A;A)

Make rs111033636(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34646786

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033636
dbSNP (classic)	rs111033636
ClinGen	rs111033636
ebi	rs111033636
HLI	rs111033636
Exac	rs111033636
Gnomad	rs111033636
Varsome	rs111033636
LitVar	rs111033636
Map	rs111033636
PheGenI	rs111033636
Biobank	rs111033636
1000 genomes	rs111033636
hgdp	rs111033636
ensembl	rs111033636
geneview	rs111033636
scholar	rs111033636
google	rs111033636
pharmgkb	rs111033636
gwascentral	rs111033636
openSNP	rs111033636
23andMe	rs111033636
SNPshot	rs111033636
SNPdbe	rs111033636
MSV3d	rs111033636
GWAS Ctlg	rs111033636

Max Magnitude

0

ClinVar
Risk	rs111033636(A;A) rs111033636(C;C) rs111033636(T;T)
Alt	rs111033636(A;A) rs111033636(C;C) rs111033636(T;T)
Reference	Rs111033636(G;G)
Significance	Other
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.34646783G>A; NC_000009.11:g.34646783G>C; NC_000009.11:g.34646783G>T
CLNSRC	ARUP GALT
CLNACC	RCV000031852.3, RCV000022047.1, RCV000022046.1,

[PMID 17041746] Mutational spectrum of classical galactosaemia in Spain and Portugal.