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rs397515350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515350(A;A)
Make rs397515350(A;C)
ReferenceGRCh38 38.1/142
Chromosome10
Position125816718
GeneUROS
is asnp
is mentioned by
dbSNPrs397515350
ebirs397515350
HLIrs397515350
Exacrs397515350
Varsomers397515350
Maprs397515350
PheGenIrs397515350
hapmaprs397515350
1000 genomesrs397515350
hgdprs397515350
ensemblrs397515350
gopubmedrs397515350
geneviewrs397515350
scholarrs397515350
googlers397515350
pharmgkbrs397515350
gwascentralrs397515350
openSNPrs397515350
23andMers397515350
23andMe allrs397515350
SNP Nexus

SNPshotrs397515350
SNPdbers397515350
MSV3drs397515350
GWAS Ctlgrs397515350
Max Magnitude0
ClinVar
Risk rs397515350(A;A)
Alt rs397515350(A;A)
Reference rs397515350(C;C)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127505287G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003962.5,