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rs869320669

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869320669(A;A)
Make rs869320669(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position125823225
GeneBCCIP, UROS
is asnp
is mentioned by
dbSNPrs869320669
ebirs869320669
HLIrs869320669
Exacrs869320669
Varsomers869320669
Maprs869320669
PheGenIrs869320669
hapmaprs869320669
1000 genomesrs869320669
hgdprs869320669
ensemblrs869320669
gopubmedrs869320669
geneviewrs869320669
scholarrs869320669
googlers869320669
pharmgkbrs869320669
gwascentralrs869320669
openSNPrs869320669
23andMers869320669
23andMe allrs869320669
SNP Nexus

SNPshotrs869320669
SNPdbers869320669
MSV3drs869320669
GWAS Ctlgrs869320669
Max Magnitude0
ClinVar
Risk rs869320669(A;A)
Alt rs869320669(A;A)
Reference rs869320669(C;C)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene BCCIP UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 1
HGVS NC_000010.10:g.127511794G>T
CLNSRC
CLNACC RCV000210863.1,