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rs28941775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Porphyria carrier
(G;G) 3.5 Porphyria
ReferenceGRCh38 38.1/141
Chromosome10
Position125815094
GeneUROS
is asnp
is mentioned by
dbSNPrs28941775
ebirs28941775
HLIrs28941775
Exacrs28941775
Varsomers28941775
Maprs28941775
PheGenIrs28941775
hapmaprs28941775
1000 genomesrs28941775
hgdprs28941775
ensemblrs28941775
gopubmedrs28941775
geneviewrs28941775
scholarrs28941775
googlers28941775
pharmgkbrs28941775
gwascentralrs28941775
openSNPrs28941775
23andMers28941775
23andMe allrs28941775
SNP Nexus

SNPshotrs28941775
SNPdbers28941775
MSV3drs28941775
GWAS Ctlgrs28941775
Max Magnitude3.5
OMIM606938
DescPORPHYRIA, CONGENITAL ERYTHROPOIETIC
Variant0004
Relatedalso
Neighborrs28941774
Distance13


ClinVar
Risk rs28941775(G;G)
Alt rs28941775(G;G)
Reference rs28941775(A;A)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127503663T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003951.3,