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

rs121908016

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908016(G;T)
Make rs121908016(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position125815034
GeneUROS
is asnp
is mentioned by
dbSNPrs121908016
ebirs121908016
HLIrs121908016
Exacrs121908016
Varsomers121908016
Maprs121908016
PheGenIrs121908016
hapmaprs121908016
1000 genomesrs121908016
hgdprs121908016
ensemblrs121908016
gopubmedrs121908016
geneviewrs121908016
scholarrs121908016
googlers121908016
pharmgkbrs121908016
gwascentralrs121908016
openSNPrs121908016
23andMers121908016
23andMe allrs121908016
SNP Nexus

SNPshotrs121908016
SNPdbers121908016
MSV3drs121908016
GWAS Ctlgrs121908016
GMAF0.0004591
Max Magnitude0
OMIM606938
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908016(T;T)
Alt rs121908016(T;T)
Reference rs121908016(G;G)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127503603C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003956.4,