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rs28941774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Porphyria carrier
(T;T) 3.5 Porphyria
ReferenceGRCh38 38.1/141
Chromosome10
Position125815081
GeneUROS
is asnp
is mentioned by
dbSNPrs28941774
ebirs28941774
HLIrs28941774
Exacrs28941774
Varsomers28941774
Maprs28941774
PheGenIrs28941774
hapmaprs28941774
1000 genomesrs28941774
hgdprs28941774
ensemblrs28941774
gopubmedrs28941774
geneviewrs28941774
scholarrs28941774
googlers28941774
pharmgkbrs28941774
gwascentralrs28941774
openSNPrs28941774
23andMers28941774
23andMe allrs28941774
SNP Nexus

SNPshotrs28941774
SNPdbers28941774
MSV3drs28941774
GWAS Ctlgrs28941774
Max Magnitude3.5
OMIM606938
DescPORPHYRIA, CONGENITAL ERYTHROPOIETIC
Variant0003
Relatedalso
Neighborrs28941775
Distance13


ClinVar
Risk rs28941774(T;T)
Alt rs28941774(T;T)
Reference rs28941774(C;C)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127503650G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003950.4,