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rs104894576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894576(A;A)
Make rs104894576(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75765043
GeneGALK1
is asnp
is mentioned by
dbSNPrs104894576
ebirs104894576
HLIrs104894576
Exacrs104894576
Varsomers104894576
Maprs104894576
PheGenIrs104894576
hapmaprs104894576
1000 genomesrs104894576
hgdprs104894576
ensemblrs104894576
gopubmedrs104894576
geneviewrs104894576
scholarrs104894576
googlers104894576
pharmgkbrs104894576
gwascentralrs104894576
openSNPrs104894576
23andMers104894576
23andMe allrs104894576
SNP Nexus

SNPshotrs104894576
SNPdbers104894576
MSV3drs104894576
GWAS Ctlgrs104894576
Max Magnitude0
OMIM604313
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894576(A;A)
Alt rs104894576(A;A)
Reference rs104894576(G;G)
Significance Pathogenic
Disease Deficiency of galactokinase
Variation info
Gene GALK1
CLNDBN Deficiency of galactokinase
Reversed 1
HGVS NC_000017.10:g.73761124C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005982.2,