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rs397515527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515527(C;C)
Make rs397515527(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position125816185
GeneUROS
is asnp
is mentioned by
dbSNPrs397515527
dbSNP (old)rs397515527
ClinGenrs397515527
ebirs397515527
HLIrs397515527
Exacrs397515527
Gnomadrs397515527
Varsomers397515527
Maprs397515527
PheGenIrs397515527
Biobankrs397515527
1000 genomesrs397515527
hgdprs397515527
ensemblrs397515527
gopubmedrs397515527
geneviewrs397515527
scholarrs397515527
googlers397515527
pharmgkbrs397515527
gwascentralrs397515527
openSNPrs397515527
23andMers397515527
23andMe allrs397515527
SNP Nexus

SNPshotrs397515527
SNPdbers397515527
MSV3drs397515527
GWAS Ctlgrs397515527
Max Magnitude0
ClinVar
Risk rs397515527(C;C)
Alt rs397515527(C;C)
Reference Rs397515527(T;T)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127504754A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000055808.1,