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rs121908013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908013(C;T)
Make rs121908013(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position125815120
GeneUROS
is asnp
is mentioned by
dbSNPrs121908013
ebirs121908013
HLIrs121908013
Exacrs121908013
Varsomers121908013
Maprs121908013
PheGenIrs121908013
hapmaprs121908013
1000 genomesrs121908013
hgdprs121908013
ensemblrs121908013
gopubmedrs121908013
geneviewrs121908013
scholarrs121908013
googlers121908013
pharmgkbrs121908013
gwascentralrs121908013
openSNPrs121908013
23andMers121908013
23andMe allrs121908013
SNP Nexus

SNPshotrs121908013
SNPdbers121908013
MSV3drs121908013
GWAS Ctlgrs121908013
Max Magnitude0
OMIM606938
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908013(T;T)
Alt rs121908013(T;T)
Reference rs121908013(C;C)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127503689G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003949.3,