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rs387906670

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906670(A;A)
Make rs387906670(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11575197
GeneACP5
is asnp
is mentioned by
dbSNPrs387906670
ebirs387906670
HLIrs387906670
Exacrs387906670
Varsomers387906670
Maprs387906670
PheGenIrs387906670
hapmaprs387906670
1000 genomesrs387906670
hgdprs387906670
ensemblrs387906670
gopubmedrs387906670
geneviewrs387906670
scholarrs387906670
googlers387906670
pharmgkbrs387906670
gwascentralrs387906670
openSNPrs387906670
23andMers387906670
23andMe allrs387906670
SNP Nexus

SNPshotrs387906670
SNPdbers387906670
MSV3drs387906670
GWAS Ctlgrs387906670
Max Magnitude0
ClinVar
Risk rs387906670(A;A)
Alt rs387906670(A;A)
Reference rs387906670(T;T)
Significance Pathogenic
Disease Spondyloenchondrodysplasia with immune dysregulation
Variation info
Gene LOC101928434 ACP5
CLNDBN Spondyloenchondrodysplasia with immune dysregulation
Reversed 1
HGVS NC_000019.9:g.11686012A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022707.26,