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rs121908021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908021(A;A)
Make rs121908021(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position125788923
GeneUROS
is asnp
is mentioned by
dbSNPrs121908021
ebirs121908021
HLIrs121908021
Exacrs121908021
Varsomers121908021
Maprs121908021
PheGenIrs121908021
hapmaprs121908021
1000 genomesrs121908021
hgdprs121908021
ensemblrs121908021
gopubmedrs121908021
geneviewrs121908021
scholarrs121908021
googlers121908021
pharmgkbrs121908021
gwascentralrs121908021
openSNPrs121908021
23andMers121908021
23andMe allrs121908021
SNP Nexus

SNPshotrs121908021
SNPdbers121908021
MSV3drs121908021
GWAS Ctlgrs121908021
Max Magnitude0
OMIM606938
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121908021(A;A)
Alt rs121908021(A;A)
Reference rs121908021(C;C)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127477492G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003967.2,