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rs72549369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72549369(C;T)
Make rs72549369(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position31397718
GeneXDH
is asnp
is mentioned by
dbSNPrs72549369
dbSNP (classic)rs72549369
ClinGenrs72549369
ebirs72549369
HLIrs72549369
Exacrs72549369
Gnomadrs72549369
Varsomers72549369
LitVarrs72549369
Maprs72549369
PheGenIrs72549369
Biobankrs72549369
1000 genomesrs72549369
hgdprs72549369
ensemblrs72549369
geneviewrs72549369
scholarrs72549369
googlers72549369
pharmgkbrs72549369
gwascentralrs72549369
openSNPrs72549369
23andMers72549369
SNPshotrs72549369
SNPdbers72549369
MSV3drs72549369
GWAS Ctlgrs72549369
Max Magnitude0
OMIM607633
Desc
Variant0003
Relatedalso


ClinVar
Risk rs72549369(T;T)
Alt rs72549369(T;T)
Reference Rs72549369(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.31620584G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003090.3,