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rs397515348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515348(C;C)
Make rs397515348(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position125816702
GeneUROS
is asnp
is mentioned by
dbSNPrs397515348
ebirs397515348
HLIrs397515348
Exacrs397515348
Varsomers397515348
Maprs397515348
PheGenIrs397515348
hapmaprs397515348
1000 genomesrs397515348
hgdprs397515348
ensemblrs397515348
gopubmedrs397515348
geneviewrs397515348
scholarrs397515348
googlers397515348
pharmgkbrs397515348
gwascentralrs397515348
openSNPrs397515348
23andMers397515348
23andMe allrs397515348
SNP Nexus

SNPshotrs397515348
SNPdbers397515348
MSV3drs397515348
GWAS Ctlgrs397515348
Max Magnitude0
ClinVar
Risk rs397515348(C;C)
Alt rs397515348(C;C)
Reference rs397515348(T;T)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127505271A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003960.3,