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rs397514765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514765(C;T)
Make rs397514765(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position45013663
GeneUROD
is asnp
is mentioned by
dbSNPrs397514765
ebirs397514765
HLIrs397514765
Exacrs397514765
Varsomers397514765
Maprs397514765
PheGenIrs397514765
hapmaprs397514765
1000 genomesrs397514765
hgdprs397514765
ensemblrs397514765
gopubmedrs397514765
geneviewrs397514765
scholarrs397514765
googlers397514765
pharmgkbrs397514765
gwascentralrs397514765
openSNPrs397514765
23andMers397514765
23andMe allrs397514765
SNP Nexus

SNPshotrs397514765
SNPdbers397514765
MSV3drs397514765
GWAS Ctlgrs397514765
Max Magnitude0
ClinVar
Risk rs397514765(T;T)
Alt rs397514765(T;T)
Reference rs397514765(C;C)
Significance Pathogenic
Disease Porphyria cutanea tarda
Variation info
Gene UROD
CLNDBN Porphyria cutanea tarda
Reversed 0
HGVS NC_000001.10:g.45479335C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054830.2,