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rs387906669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906669(C;T)
Make rs387906669(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11576311
GeneACP5
is asnp
is mentioned by
dbSNPrs387906669
ebirs387906669
HLIrs387906669
Exacrs387906669
Varsomers387906669
Maprs387906669
PheGenIrs387906669
hapmaprs387906669
1000 genomesrs387906669
hgdprs387906669
ensemblrs387906669
gopubmedrs387906669
geneviewrs387906669
scholarrs387906669
googlers387906669
pharmgkbrs387906669
gwascentralrs387906669
openSNPrs387906669
23andMers387906669
23andMe allrs387906669
SNP Nexus

SNPshotrs387906669
SNPdbers387906669
MSV3drs387906669
GWAS Ctlgrs387906669
Max Magnitude0
ClinVar
Risk rs387906669(T;T)
Alt rs387906669(T;T)
Reference rs387906669(C;C)
Significance Pathogenic
Disease Spondyloenchondrodysplasia with immune dysregulation
Variation info
Gene ACP5
CLNDBN Spondyloenchondrodysplasia with immune dysregulation
Reversed 1
HGVS NC_000019.9:g.11687126G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022706.27,