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rs80084721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80084721(A;A)
Make rs80084721(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75763032
GeneGALK1
is asnp
is mentioned by
dbSNPrs80084721
ebirs80084721
HLIrs80084721
Exacrs80084721
Varsomers80084721
Maprs80084721
PheGenIrs80084721
hapmaprs80084721
1000 genomesrs80084721
hgdprs80084721
ensemblrs80084721
gopubmedrs80084721
geneviewrs80084721
scholarrs80084721
googlers80084721
pharmgkbrs80084721
gwascentralrs80084721
openSNPrs80084721
23andMers80084721
23andMe allrs80084721
SNP Nexus

SNPshotrs80084721
SNPdbers80084721
MSV3drs80084721
GWAS Ctlgrs80084721
GMAF0.006428
Max Magnitude0
OMIM604313
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80084721(A,T;A,T)
Alt rs80084721(A,T;A,T)
Reference rs80084721(G;G)
Significance Pathogenic
Disease Deficiency of galactokinase
Variation info
Gene GALK1
CLNDBN Deficiency of galactokinase
Reversed 0
HGVS NC_000017.10:g.73759113G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005987.2,