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rs397514764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCGAATGGG;AGCGAATGGG) 0 common in clinvar
Make rs397514764(-;-)
Make rs397514764(-;AGCGAATGGG)
ReferenceGRCh38 38.1/141
Chromosome1
Position45012271
GeneHECTD3, UROD
is asnp
is mentioned by
dbSNPrs397514764
ebirs397514764
HLIrs397514764
Exacrs397514764
Varsomers397514764
Maprs397514764
PheGenIrs397514764
hapmaprs397514764
1000 genomesrs397514764
hgdprs397514764
ensemblrs397514764
gopubmedrs397514764
geneviewrs397514764
scholarrs397514764
googlers397514764
pharmgkbrs397514764
gwascentralrs397514764
openSNPrs397514764
23andMers397514764
23andMe allrs397514764
SNP Nexus

SNPshotrs397514764
SNPdbers397514764
MSV3drs397514764
GWAS Ctlgrs397514764
Max Magnitude0
ClinVar
Risk rs397514764(;)
Alt rs397514764(;)
Reference rs397514764(AGCGAATGGG;AGCGAATGGG)
Significance Pathogenic
Disease Porphyria cutanea tarda
Variation info
Gene HECTD3 UROD
CLNDBN Porphyria cutanea tarda
Reversed 0
HGVS NC_000001.10:g.45477943_45477952delAGCGAATGGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000054829.2,