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rs142150953

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of a pathogenic mutation for Xanthinuria type 2
(T;T) 4.5 Xanthinuria type 2
ReferenceGRCh38.p7 38.3/149
Chromosome18
Position36213402
GeneMOCOS
is asnp
is mentioned by
dbSNPrs142150953
dbSNP (old)rs142150953
ClinGenrs142150953
ebirs142150953
HLIrs142150953
Exacrs142150953
Gnomadrs142150953
Varsomers142150953
Maprs142150953
PheGenIrs142150953
Biobankrs142150953
1000 genomesrs142150953
hgdprs142150953
ensemblrs142150953
gopubmedrs142150953
geneviewrs142150953
scholarrs142150953
googlers142150953
pharmgkbrs142150953
gwascentralrs142150953
openSNPrs142150953
23andMers142150953
23andMe allrs142150953
SNPshotrs142150953
SNPdbers142150953
MSV3drs142150953
GWAS Ctlgrs142150953
Max Magnitude4.5

MOCOS gene, c.1255C>T (p.Arg419Ter)

Minor allele is reported in ClinVar as pathogenic for Xanthinuria type 2

ClinVar
Risk rs142150953(A;A) Rs142150953(T;T)
Alt rs142150953(A;A) Rs142150953(T;T)
Reference Rs142150953(C;C)
Significance Pathogenic
Disease Xanthinuria type 2
Variation info
Gene MOCOS
CLNDBN Xanthinuria type 2
Reversed 0
HGVS NC_000018.9:g.33793365C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239577.1,