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rs104894572

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894572(A;A)
Make rs104894572(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position75765055
GeneGALK1
is asnp
is mentioned by
dbSNPrs104894572
ebirs104894572
HLIrs104894572
Exacrs104894572
Varsomers104894572
Maprs104894572
PheGenIrs104894572
hapmaprs104894572
1000 genomesrs104894572
hgdprs104894572
ensemblrs104894572
gopubmedrs104894572
geneviewrs104894572
scholarrs104894572
googlers104894572
pharmgkbrs104894572
gwascentralrs104894572
openSNPrs104894572
23andMers104894572
23andMe allrs104894572
SNP Nexus

SNPshotrs104894572
SNPdbers104894572
MSV3drs104894572
GWAS Ctlgrs104894572
Max Magnitude0
OMIM604313
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894572(A;A)
Alt rs104894572(A;A)
Reference rs104894572(C;C)
Significance Pathogenic
Disease Deficiency of galactokinase
Variation info
Gene GALK1
CLNDBN Deficiency of galactokinase
Reversed 1
HGVS NC_000017.10:g.73761136G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005984.2,