Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894577

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894577(G;T)
Make rs104894577(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75764014
GeneGALK1
is asnp
is mentioned by
dbSNPrs104894577
ebirs104894577
HLIrs104894577
Exacrs104894577
Varsomers104894577
Maprs104894577
PheGenIrs104894577
hapmaprs104894577
1000 genomesrs104894577
hgdprs104894577
ensemblrs104894577
gopubmedrs104894577
geneviewrs104894577
scholarrs104894577
googlers104894577
pharmgkbrs104894577
gwascentralrs104894577
openSNPrs104894577
23andMers104894577
23andMe allrs104894577
SNP Nexus

SNPshotrs104894577
SNPdbers104894577
MSV3drs104894577
GWAS Ctlgrs104894577
Max Magnitude0
OMIM604313
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894577(T;T)
Alt rs104894577(T;T)
Reference rs104894577(G;G)
Significance Pathogenic
Disease Deficiency of galactokinase
Variation info
Gene GALK1
CLNDBN Deficiency of galactokinase
Reversed 1
HGVS NC_000017.10:g.73760095C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005983.2,