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rs387906671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTA;CTA) 0 common in clinvar
Make rs387906671(-;-)
Make rs387906671(-;CTA)
ReferenceGRCh38 38.1/141
Chromosome19
Position11575155
GeneACP5
is asnp
is mentioned by
dbSNPrs387906671
ebirs387906671
HLIrs387906671
Exacrs387906671
Varsomers387906671
Maprs387906671
PheGenIrs387906671
hapmaprs387906671
1000 genomesrs387906671
hgdprs387906671
ensemblrs387906671
gopubmedrs387906671
geneviewrs387906671
scholarrs387906671
googlers387906671
pharmgkbrs387906671
gwascentralrs387906671
openSNPrs387906671
23andMers387906671
23andMe allrs387906671
SNP Nexus

SNPshotrs387906671
SNPdbers387906671
MSV3drs387906671
GWAS Ctlgrs387906671
Max Magnitude0
ClinVar
Risk rs387906671(;)
Alt rs387906671(;)
Reference rs387906671(CTA;CTA)
Significance Pathogenic
Disease Spondyloenchondrodysplasia with immune dysregulation
Variation info
Gene LOC101928434 ACP5
CLNDBN Spondyloenchondrodysplasia with immune dysregulation
Reversed 1
HGVS NC_000019.9:g.11685970_11685972delTAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000022710.26,