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rs121908020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908020(A;A)
Make rs121908020(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position125788993
GeneUROS
is asnp
is mentioned by
dbSNPrs121908020
ebirs121908020
HLIrs121908020
Exacrs121908020
Varsomers121908020
Maprs121908020
PheGenIrs121908020
hapmaprs121908020
1000 genomesrs121908020
hgdprs121908020
ensemblrs121908020
gopubmedrs121908020
geneviewrs121908020
scholarrs121908020
googlers121908020
pharmgkbrs121908020
gwascentralrs121908020
openSNPrs121908020
23andMers121908020
23andMe allrs121908020
SNP Nexus

SNPshotrs121908020
SNPdbers121908020
MSV3drs121908020
GWAS Ctlgrs121908020
Max Magnitude0
OMIM606938
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121908020(A;A)
Alt rs121908020(A;A)
Reference rs121908020(G;G)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127477562C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003964.4,