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rs121918059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918059(C;G)
Make rs121918059(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position45014835
GeneUROD
is asnp
is mentioned by
dbSNPrs121918059
ebirs121918059
HLIrs121918059
Exacrs121918059
Varsomers121918059
Maprs121918059
PheGenIrs121918059
hapmaprs121918059
1000 genomesrs121918059
hgdprs121918059
ensemblrs121918059
gopubmedrs121918059
geneviewrs121918059
scholarrs121918059
googlers121918059
pharmgkbrs121918059
gwascentralrs121918059
openSNPrs121918059
23andMers121918059
23andMe allrs121918059
SNP Nexus

SNPshotrs121918059
SNPdbers121918059
MSV3drs121918059
GWAS Ctlgrs121918059
Max Magnitude0
OMIM613521
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918059(G,T;G,T)
Alt rs121918059(G,T;G,T)
Reference rs121918059(C;C)
Significance Pathogenic
Disease Hepatoerythropoietic porphyria
Variation info
Gene UROD
CLNDBN Hepatoerythropoietic porphyria
Reversed 0
HGVS NC_000001.10:g.45480507C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000087.3,