Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918057(G;T)
Make rs121918057(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position45014803
GeneUROD
is asnp
is mentioned by
dbSNPrs121918057
ebirs121918057
HLIrs121918057
Exacrs121918057
Varsomers121918057
Maprs121918057
PheGenIrs121918057
hapmaprs121918057
1000 genomesrs121918057
hgdprs121918057
ensemblrs121918057
gopubmedrs121918057
geneviewrs121918057
scholarrs121918057
googlers121918057
pharmgkbrs121918057
gwascentralrs121918057
openSNPrs121918057
23andMers121918057
23andMe allrs121918057
SNP Nexus

SNPshotrs121918057
SNPdbers121918057
MSV3drs121918057
GWAS Ctlgrs121918057
Max Magnitude0
OMIM613521
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918057(A,T;A,T)
Alt rs121918057(A,T;A,T)
Reference rs121918057(G;G)
Significance Pathogenic
Disease Hepatoerythropoietic porphyria Porphyria cutanea tarda Familial porphyria cutanea tarda
Variation info
Gene UROD
CLNDBN Hepatoerythropoietic porphyria Porphyria cutanea tarda Familial porphyria cutanea tarda
Reversed 0
HGVS NC_000001.10:g.45480475G>A; NC_000001.10:g.45480475G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000083.2, RCV000024023.2, RCV000000082.3,