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rs121918066

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918066(A;A)
Make rs121918066(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position45015389
GeneUROD
is asnp
is mentioned by
dbSNPrs121918066
dbSNP (classic)rs121918066
ClinGenrs121918066
ebirs121918066
HLIrs121918066
Exacrs121918066
Gnomadrs121918066
Varsomers121918066
LitVarrs121918066
Maprs121918066
PheGenIrs121918066
Biobankrs121918066
1000 genomesrs121918066
hgdprs121918066
ensemblrs121918066
geneviewrs121918066
scholarrs121918066
googlers121918066
pharmgkbrs121918066
gwascentralrs121918066
openSNPrs121918066
23andMers121918066
SNPshotrs121918066
SNPdbers121918066
MSV3drs121918066
GWAS Ctlgrs121918066
Max Magnitude0
OMIM613521
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918066(A;A)
Alt rs121918066(A;A)
Reference Rs121918066(G;G)
Significance Pathogenic
Disease Familial porphyria cutanea tarda
Variation info
Gene UROD
CLNDBN Familial porphyria cutanea tarda
Reversed 0
HGVS NC_000001.10:g.45481061G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000094.3,