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rs786205053

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786205053(-;-)
Make rs786205053(-;GCAGC)
Make rs786205053(GCAGC;GCAGC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position98593373
GeneCPOX
is asnp
is mentioned by
dbSNPrs786205053
ebirs786205053
HLIrs786205053
Exacrs786205053
Varsomers786205053
Maprs786205053
PheGenIrs786205053
hapmaprs786205053
1000 genomesrs786205053
hgdprs786205053
ensemblrs786205053
gopubmedrs786205053
geneviewrs786205053
scholarrs786205053
googlers786205053
pharmgkbrs786205053
gwascentralrs786205053
openSNPrs786205053
23andMers786205053
23andMe allrs786205053
SNP Nexus

SNPshotrs786205053
SNPdbers786205053
MSV3drs786205053
GWAS Ctlgrs786205053
Max Magnitude0
ClinVar
Risk rs786205053(GCAGC;GCAGC)
Alt rs786205053(GCAGC;GCAGC)
Reference rs786205053(;)
Significance Pathogenic
Disease Coproporphyria
Variation info
Gene CPOX
CLNDBN Coproporphyria
Reversed 1
HGVS NC_000003.11:g.98312218_98312222dupGCTGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000483.4,