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rs869320670

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320670(C;C)
Make rs869320670(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position125823205
GeneBCCIP, UROS
is asnp
is mentioned by
dbSNPrs869320670
ebirs869320670
HLIrs869320670
Exacrs869320670
Varsomers869320670
Maprs869320670
PheGenIrs869320670
hapmaprs869320670
1000 genomesrs869320670
hgdprs869320670
ensemblrs869320670
gopubmedrs869320670
geneviewrs869320670
scholarrs869320670
googlers869320670
pharmgkbrs869320670
gwascentralrs869320670
openSNPrs869320670
23andMers869320670
23andMe allrs869320670
SNP Nexus

SNPshotrs869320670
SNPdbers869320670
MSV3drs869320670
GWAS Ctlgrs869320670
Max Magnitude0
ClinVar
Risk rs869320670(C;C)
Alt rs869320670(C;C)
Reference rs869320670(T;T)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene BCCIP UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127511774A>G
CLNSRC
CLNACC RCV000210860.1,