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rs397515528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515528(C;T)
Make rs397515528(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position125812222
GeneUROS
is asnp
is mentioned by
dbSNPrs397515528
ebirs397515528
HLIrs397515528
Exacrs397515528
Varsomers397515528
Maprs397515528
PheGenIrs397515528
hapmaprs397515528
1000 genomesrs397515528
hgdprs397515528
ensemblrs397515528
gopubmedrs397515528
geneviewrs397515528
scholarrs397515528
googlers397515528
pharmgkbrs397515528
gwascentralrs397515528
openSNPrs397515528
23andMers397515528
23andMe allrs397515528
SNP Nexus

SNPshotrs397515528
SNPdbers397515528
MSV3drs397515528
GWAS Ctlgrs397515528
Max Magnitude0
ClinVar
Risk rs397515528(T;T)
Alt rs397515528(T;T)
Reference rs397515528(C;C)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127500791G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055809.1,