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rs75391579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs75391579(A;G)
Make rs75391579(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648170
GeneGALT
is asnp
is mentioned by
dbSNPrs75391579
ebirs75391579
HLIrs75391579
Exacrs75391579
Varsomers75391579
Maprs75391579
PheGenIrs75391579
hapmaprs75391579
1000 genomesrs75391579
hgdprs75391579
ensemblrs75391579
gopubmedrs75391579
geneviewrs75391579
scholarrs75391579
googlers75391579
pharmgkbrs75391579
gwascentralrs75391579
openSNPrs75391579
23andMers75391579
23andMe allrs75391579
SNP Nexus

SNPshotrs75391579
SNPdbers75391579
MSV3drs75391579
GWAS Ctlgrs75391579
GMAF0.001377
Max Magnitude0
OMIM606999
Desc
Variant0006
Relatedalso
ClinVar
Risk rs75391579(G;G)
Alt rs75391579(G;G)
Reference rs75391579(A;A)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Reversed 0
HGVS NC_000009.11:g.34648167A>G
CLNSRC ARUP GALT HGMD OMIM Allelic Variant
CLNACC RCV000003798.5, RCV000185917.2,


[PMID 16838075] Classical galactosaemia revisited.