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rs387906672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906672(C;C)
Make rs387906672(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11576376
GeneACP5
is asnp
is mentioned by
dbSNPrs387906672
ebirs387906672
HLIrs387906672
Exacrs387906672
Varsomers387906672
Maprs387906672
PheGenIrs387906672
hapmaprs387906672
1000 genomesrs387906672
hgdprs387906672
ensemblrs387906672
gopubmedrs387906672
geneviewrs387906672
scholarrs387906672
googlers387906672
pharmgkbrs387906672
gwascentralrs387906672
openSNPrs387906672
23andMers387906672
23andMe allrs387906672
SNP Nexus

SNPshotrs387906672
SNPdbers387906672
MSV3drs387906672
GWAS Ctlgrs387906672
Max Magnitude0
ClinVar
Risk rs387906672(C;C)
Alt rs387906672(C;C)
Reference rs387906672(T;T)
Significance Pathogenic
Disease Spondyloenchondrodysplasia with immune dysregulation
Variation info
Gene ACP5
CLNDBN Spondyloenchondrodysplasia with immune dysregulation
Reversed 1
HGVS NC_000019.9:g.11687191A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022711.20,