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rs121918062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918062(A;A)
Make rs121918062(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position45015006
GeneUROD
is asnp
is mentioned by
dbSNPrs121918062
dbSNP (classic)rs121918062
ClinGenrs121918062
ebirs121918062
HLIrs121918062
Exacrs121918062
Gnomadrs121918062
Varsomers121918062
LitVarrs121918062
Maprs121918062
PheGenIrs121918062
Biobankrs121918062
1000 genomesrs121918062
hgdprs121918062
ensemblrs121918062
geneviewrs121918062
scholarrs121918062
googlers121918062
pharmgkbrs121918062
gwascentralrs121918062
openSNPrs121918062
23andMers121918062
SNPshotrs121918062
SNPdbers121918062
MSV3drs121918062
GWAS Ctlgrs121918062
Max Magnitude0
OMIM613521
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918062(A;A)
Alt rs121918062(A;A)
Reference Rs121918062(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.45480678G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000090.3,