Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908017(A;A)
Make rs121908017(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position125794978
GeneUROS
is asnp
is mentioned by
dbSNPrs121908017
ebirs121908017
HLIrs121908017
Exacrs121908017
Varsomers121908017
Maprs121908017
PheGenIrs121908017
hapmaprs121908017
1000 genomesrs121908017
hgdprs121908017
ensemblrs121908017
gopubmedrs121908017
geneviewrs121908017
scholarrs121908017
googlers121908017
pharmgkbrs121908017
gwascentralrs121908017
openSNPrs121908017
23andMers121908017
23andMe allrs121908017
SNP Nexus

SNPshotrs121908017
SNPdbers121908017
MSV3drs121908017
GWAS Ctlgrs121908017
Max Magnitude0
OMIM606938
Desc
Variant0010
Relatedalso
OMIM606938
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908017(A,T;A,T)
Alt rs121908017(A,T;A,T)
Reference rs121908017(G;G)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127483547C>A; NC_000010.10:g.127483547C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003959.4, RCV000003957.3,