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rs397515351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515351(A;A)
Make rs397515351(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position125816722
GeneUROS
is asnp
is mentioned by
dbSNPrs397515351
ClinGenrs397515351
ebirs397515351
HLIrs397515351
Exacrs397515351
Varsomers397515351
Maprs397515351
PheGenIrs397515351
hapmaprs397515351
1000 genomesrs397515351
hgdprs397515351
ensemblrs397515351
gopubmedrs397515351
geneviewrs397515351
scholarrs397515351
googlers397515351
pharmgkbrs397515351
gwascentralrs397515351
openSNPrs397515351
23andMers397515351
23andMe allrs397515351
SNP Nexus

SNPshotrs397515351
SNPdbers397515351
MSV3drs397515351
GWAS Ctlgrs397515351
Max Magnitude0
[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs397515351(A;A)
Alt rs397515351(A;A)
Reference Rs397515351(C;C)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127505291G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003963.6,