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rs587777271

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777271(C;C)
Make rs587777271(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position98585633
GeneCPOX
is asnp
is mentioned by
dbSNPrs587777271
dbSNP (classic)rs587777271
ClinGenrs587777271
ebirs587777271
HLIrs587777271
Exacrs587777271
Gnomadrs587777271
Varsomers587777271
LitVarrs587777271
Maprs587777271
PheGenIrs587777271
Biobankrs587777271
1000 genomesrs587777271
hgdprs587777271
ensemblrs587777271
geneviewrs587777271
scholarrs587777271
googlers587777271
pharmgkbrs587777271
gwascentralrs587777271
openSNPrs587777271
23andMers587777271
SNPshotrs587777271
SNPdbers587777271
MSV3drs587777271
GWAS Ctlgrs587777271
Max Magnitude0
ClinVar
Risk rs587777271(C;C) Rs587777271(T;T)
Alt rs587777271(C;C) Rs587777271(T;T)
Reference Rs587777271(A;A)
Significance Pathogenic
Disease Harderoporphyria
Variation info
Gene CPOX
CLNDBN Harderoporphyria
Reversed 1
HGVS NC_000003.11:g.98304477T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000114373.2,