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rs143823335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143823335(A;A)
Make rs143823335(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position45014012
GeneUROD
is asnp
is mentioned by
dbSNPrs143823335
dbSNP (old)rs143823335
ClinGenrs143823335
ebirs143823335
HLIrs143823335
Exacrs143823335
Gnomadrs143823335
Varsomers143823335
LitVarrs143823335
Maprs143823335
PheGenIrs143823335
Biobankrs143823335
1000 genomesrs143823335
hgdprs143823335
ensemblrs143823335
gopubmedrs143823335
geneviewrs143823335
scholarrs143823335
googlers143823335
pharmgkbrs143823335
gwascentralrs143823335
openSNPrs143823335
23andMers143823335
23andMe allrs143823335
SNPshotrs143823335
SNPdbers143823335
MSV3drs143823335
GWAS Ctlgrs143823335
Max Magnitude0
ClinVar
Risk rs143823335(A;A) rs143823335(C;C)
Alt rs143823335(A;A) rs143823335(C;C)
Reference Rs143823335(G;G)
Significance Pathogenic
Disease Familial porphyria cutanea tarda
Variation info
Gene UROD
CLNDBN Familial porphyria cutanea tarda
Reversed 0
HGVS NC_000001.10:g.45479684G>C
CLNSRC
CLNACC RCV000240668.1,