rs111033678

Orientation

plus

Stabilized

plus

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

Make rs111033678(A;C)

Make rs111033678(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647669

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033678
dbSNP (classic)	rs111033678
ClinGen	rs111033678
ebi	rs111033678
HLI	rs111033678
Exac	rs111033678
Gnomad	rs111033678
Varsome	rs111033678
LitVar	rs111033678
Map	rs111033678
PheGenI	rs111033678
Biobank	rs111033678
1000 genomes	rs111033678
hgdp	rs111033678
ensembl	rs111033678
geneview	rs111033678
scholar	rs111033678
google	rs111033678
pharmgkb	rs111033678
gwascentral	rs111033678
openSNP	rs111033678
23andMe	rs111033678
SNPshot	rs111033678
SNPdbe	rs111033678
MSV3d	rs111033678
GWAS Ctlg	rs111033678

Max Magnitude

0

ClinVar
Risk	rs111033678(C;C) rs111033678(T;T)
Alt	rs111033678(C;C) rs111033678(T;T)
Reference	Rs111033678(A;A)
Significance	Pathogenic
Disease	not specified Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation	info
Gene	GALT
CLNDBN	not specified Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed	0
HGVS	NC_000009.11:g.34647666A>C; NC_000009.11:g.34647666A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000299685.1, RCV000022090.1,

[PMID 11261429] The molecular biology of galactosemia.