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rs119460972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119460972(C;T)
Make rs119460972(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position31386525
GeneXDH
is asnp
is mentioned by
dbSNPrs119460972
ebirs119460972
HLIrs119460972
Exacrs119460972
Varsomers119460972
Maprs119460972
PheGenIrs119460972
hapmaprs119460972
1000 genomesrs119460972
hgdprs119460972
ensemblrs119460972
gopubmedrs119460972
geneviewrs119460972
scholarrs119460972
googlers119460972
pharmgkbrs119460972
gwascentralrs119460972
openSNPrs119460972
23andMers119460972
23andMe allrs119460972
SNP Nexus

SNPshotrs119460972
SNPdbers119460972
MSV3drs119460972
GWAS Ctlgrs119460972
Max Magnitude0
OMIM607633
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119460972(A,G,T;A,G,T)
Alt rs119460972(A,G,T;A,G,T)
Reference rs119460972(C;C)
Significance Pathogenic
Disease Deficiency of xanthine oxidase
Variation info
Gene XDH
CLNDBN Deficiency of xanthine oxidase
Reversed 1
HGVS NC_000002.11:g.31609391G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003088.3,