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rs796051859

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796051859(-;G)
Make rs796051859(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position125798142
GeneUROS
is asnp
is mentioned by
dbSNPrs796051859
ClinGenrs796051859
ebirs796051859
HLIrs796051859
Exacrs796051859
Varsomers796051859
Maprs796051859
PheGenIrs796051859
Biobankrs796051859
1000 genomesrs796051859
hgdprs796051859
ensemblrs796051859
gopubmedrs796051859
geneviewrs796051859
scholarrs796051859
googlers796051859
pharmgkbrs796051859
gwascentralrs796051859
openSNPrs796051859
23andMers796051859
23andMe allrs796051859
SNP Nexus

SNPshotrs796051859
SNPdbers796051859
MSV3drs796051859
GWAS Ctlgrs796051859
Max Magnitude0
ClinVar
Risk rs796051859(G;G)
Alt rs796051859(G;G)
Reference Rs796051859(-;-)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127486712dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003966.3,