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rs397515349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515349(A;A)
Make rs397515349(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position125816708
GeneUROS
is asnp
is mentioned by
dbSNPrs397515349
ebirs397515349
HLIrs397515349
Exacrs397515349
Varsomers397515349
Maprs397515349
PheGenIrs397515349
hapmaprs397515349
1000 genomesrs397515349
hgdprs397515349
ensemblrs397515349
gopubmedrs397515349
geneviewrs397515349
scholarrs397515349
googlers397515349
pharmgkbrs397515349
gwascentralrs397515349
openSNPrs397515349
23andMers397515349
23andMe allrs397515349
SNP Nexus

SNPshotrs397515349
SNPdbers397515349
MSV3drs397515349
GWAS Ctlgrs397515349
Max Magnitude0
ClinVar
Risk rs397515349(A;A)
Alt rs397515349(A;A)
Reference rs397515349(G;G)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127505277C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003961.5,