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rs121918061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918061(A;G)
Make rs121918061(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position45014996
GeneUROD
is asnp
is mentioned by
dbSNPrs121918061
dbSNP (classic)rs121918061
ClinGenrs121918061
ebirs121918061
HLIrs121918061
Exacrs121918061
Gnomadrs121918061
Varsomers121918061
LitVarrs121918061
Maprs121918061
PheGenIrs121918061
Biobankrs121918061
1000 genomesrs121918061
hgdprs121918061
ensemblrs121918061
geneviewrs121918061
scholarrs121918061
googlers121918061
pharmgkbrs121918061
gwascentralrs121918061
openSNPrs121918061
23andMers121918061
SNPshotrs121918061
SNPdbers121918061
MSV3drs121918061
GWAS Ctlgrs121918061
Max Magnitude0
OMIM613521
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918061(G;G)
Alt rs121918061(G;G)
Reference Rs121918061(A;A)
Significance Pathogenic
Disease Hepatoerythropoietic porphyria
Variation info
Gene UROD
CLNDBN Hepatoerythropoietic porphyria
Reversed 0
HGVS NC_000001.10:g.45480668A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000089.3,