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rs121908018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908018(A;T)
Make rs121908018(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position125815035
GeneUROS
is asnp
is mentioned by
dbSNPrs121908018
ebirs121908018
HLIrs121908018
Exacrs121908018
Varsomers121908018
Maprs121908018
PheGenIrs121908018
hapmaprs121908018
1000 genomesrs121908018
hgdprs121908018
ensemblrs121908018
gopubmedrs121908018
geneviewrs121908018
scholarrs121908018
googlers121908018
pharmgkbrs121908018
gwascentralrs121908018
openSNPrs121908018
23andMers121908018
23andMe allrs121908018
SNP Nexus

SNPshotrs121908018
SNPdbers121908018
MSV3drs121908018
GWAS Ctlgrs121908018
Max Magnitude0
OMIM606938
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908018(T;T)
Alt rs121908018(T;T)
Reference rs121908018(A;A)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127503604T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003958.3,