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rs111033608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033608(C;T)
Make rs111033608(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75758091
GeneGALK1, ITGB4
is asnp
is mentioned by
dbSNPrs111033608
ebirs111033608
HLIrs111033608
Exacrs111033608
Varsomers111033608
Maprs111033608
PheGenIrs111033608
hapmaprs111033608
1000 genomesrs111033608
hgdprs111033608
ensemblrs111033608
gopubmedrs111033608
geneviewrs111033608
scholarrs111033608
googlers111033608
pharmgkbrs111033608
gwascentralrs111033608
openSNPrs111033608
23andMers111033608
23andMe allrs111033608
SNP Nexus

SNPshotrs111033608
SNPdbers111033608
MSV3drs111033608
GWAS Ctlgrs111033608
Max Magnitude0
OMIM604313
Desc
Variant0004
Relatedalso
ClinVar
Risk rs111033608(T;T)
Alt rs111033608(T;T)
Reference rs111033608(C;C)
Significance Pathogenic
Disease Deficiency of galactokinase
Variation info
Gene ITGB4 GALK1
CLNDBN Deficiency of galactokinase
Reversed 1
HGVS NC_000017.10:g.73754172G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005985.2,