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rs373864821

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373864821(C;T)
Make rs373864821(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position125816436
GeneUROS
is asnp
is mentioned by
dbSNPrs373864821
ebirs373864821
HLIrs373864821
Exacrs373864821
Varsomers373864821
Maprs373864821
PheGenIrs373864821
hapmaprs373864821
1000 genomesrs373864821
hgdprs373864821
ensemblrs373864821
gopubmedrs373864821
geneviewrs373864821
scholarrs373864821
googlers373864821
pharmgkbrs373864821
gwascentralrs373864821
openSNPrs373864821
23andMers373864821
23andMe allrs373864821
SNP Nexus

SNPshotrs373864821
SNPdbers373864821
MSV3drs373864821
GWAS Ctlgrs373864821
Max Magnitude0
ClinVar
Risk rs373864821(T;T)
Alt rs373864821(T;T)
Reference rs373864821(C;C)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 0
HGVS NC_000010.10:g.127505005C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003965.3,