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rs878853218

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTGGGGCTGGGAATTTCA;AGTGGGGCTGGGAATTTCA) 0 common in clinvar
Make rs878853218(-;-)
Make rs878853218(-;AGTGGGGCTGGGAATTTCA)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11575198
GeneACP5, ZNF627
is asnp
is mentioned by
dbSNPrs878853218
dbSNP (old)rs878853218
ClinGenrs878853218
ebirs878853218
HLIrs878853218
Exacrs878853218
Gnomadrs878853218
Varsomers878853218
Maprs878853218
PheGenIrs878853218
Biobankrs878853218
1000 genomesrs878853218
hgdprs878853218
ensemblrs878853218
gopubmedrs878853218
geneviewrs878853218
scholarrs878853218
googlers878853218
pharmgkbrs878853218
gwascentralrs878853218
openSNPrs878853218
23andMers878853218
23andMe allrs878853218
SNP Nexus

SNPshotrs878853218
SNPdbers878853218
MSV3drs878853218
GWAS Ctlgrs878853218
Max Magnitude0
ClinVar
Risk rs878853218(-;-)
Alt rs878853218(-;-)
Reference Rs878853218(AGTGGGGCTGGGAATTTCA;AGTGGGGCTGGGAATTTCA)
Significance Pathogenic
Disease Spondyloenchondrodysplasia with immune dysregulation
Variation info
Gene ACP5 LOC101928434
CLNDBN Spondyloenchondrodysplasia with immune dysregulation
Reversed 1
HGVS NC_000019.9:g.11686013_11686031del19
CLNSRC OMIM Allelic Variant
CLNACC RCV000210955.1,