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rs121918058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918058(A;A)
Make rs121918058(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position45013933
GeneUROD
is asnp
is mentioned by
dbSNPrs121918058
ebirs121918058
HLIrs121918058
Exacrs121918058
Varsomers121918058
Maprs121918058
PheGenIrs121918058
hapmaprs121918058
1000 genomesrs121918058
hgdprs121918058
ensemblrs121918058
gopubmedrs121918058
geneviewrs121918058
scholarrs121918058
googlers121918058
pharmgkbrs121918058
gwascentralrs121918058
openSNPrs121918058
23andMers121918058
23andMe allrs121918058
SNP Nexus

SNPshotrs121918058
SNPdbers121918058
MSV3drs121918058
GWAS Ctlgrs121918058
Max Magnitude0
OMIM613521
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918058(A;A)
Alt rs121918058(A;A)
Reference rs121918058(G;G)
Significance Pathogenic
Disease Hepatoerythropoietic porphyria
Variation info
Gene UROD
CLNDBN Hepatoerythropoietic porphyria
Reversed 0
HGVS NC_000001.10:g.45479605G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000086.3,