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rs121918060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918060(C;T)
Make rs121918060(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position45013187
GeneHECTD3, UROD
is asnp
is mentioned by
dbSNPrs121918060
ebirs121918060
HLIrs121918060
Exacrs121918060
Varsomers121918060
Maprs121918060
PheGenIrs121918060
hapmaprs121918060
1000 genomesrs121918060
hgdprs121918060
ensemblrs121918060
gopubmedrs121918060
geneviewrs121918060
scholarrs121918060
googlers121918060
pharmgkbrs121918060
gwascentralrs121918060
openSNPrs121918060
23andMers121918060
23andMe allrs121918060
SNP Nexus

SNPshotrs121918060
SNPdbers121918060
MSV3drs121918060
GWAS Ctlgrs121918060
Max Magnitude0
OMIM613521
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918060(T;T)
Alt rs121918060(T;T)
Reference rs121918060(C;C)
Significance Pathogenic
Disease Hepatoerythropoietic porphyria
Variation info
Gene HECTD3 UROD
CLNDBN Hepatoerythropoietic porphyria
Reversed 0
HGVS NC_000001.10:g.45478859C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000088.3,