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rs121918064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918064(C;T)
Make rs121918064(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position45014017
GeneUROD
is asnp
is mentioned by
dbSNPrs121918064
ebirs121918064
HLIrs121918064
Exacrs121918064
Varsomers121918064
Maprs121918064
PheGenIrs121918064
hapmaprs121918064
1000 genomesrs121918064
hgdprs121918064
ensemblrs121918064
gopubmedrs121918064
geneviewrs121918064
scholarrs121918064
googlers121918064
pharmgkbrs121918064
gwascentralrs121918064
openSNPrs121918064
23andMers121918064
23andMe allrs121918064
SNP Nexus

SNPshotrs121918064
SNPdbers121918064
MSV3drs121918064
GWAS Ctlgrs121918064
Max Magnitude0
OMIM613521
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918064(T;T)
Alt rs121918064(T;T)
Reference rs121918064(C;C)
Significance Pathogenic
Disease Familial porphyria cutanea tarda
Variation info
Gene UROD
CLNDBN Familial porphyria cutanea tarda
Reversed 0
HGVS NC_000001.10:g.45479689C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000092.3,