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rs121908014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908014(C;T)
Make rs121908014(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position125788983
GeneUROS
is asnp
is mentioned by
dbSNPrs121908014
ebirs121908014
HLIrs121908014
Exacrs121908014
Varsomers121908014
Maprs121908014
PheGenIrs121908014
hapmaprs121908014
1000 genomesrs121908014
hgdprs121908014
ensemblrs121908014
gopubmedrs121908014
geneviewrs121908014
scholarrs121908014
googlers121908014
pharmgkbrs121908014
gwascentralrs121908014
openSNPrs121908014
23andMers121908014
23andMe allrs121908014
SNP Nexus

SNPshotrs121908014
SNPdbers121908014
MSV3drs121908014
GWAS Ctlgrs121908014
Max Magnitude0
OMIM606938
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908014(T;T)
Alt rs121908014(T;T)
Reference rs121908014(C;C)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127477552G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003952.3,