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rs387906668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906668(C;T)
Make rs387906668(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11576839
GeneACP5
is asnp
is mentioned by
dbSNPrs387906668
ebirs387906668
HLIrs387906668
Exacrs387906668
Varsomers387906668
Maprs387906668
PheGenIrs387906668
hapmaprs387906668
1000 genomesrs387906668
hgdprs387906668
ensemblrs387906668
gopubmedrs387906668
geneviewrs387906668
scholarrs387906668
googlers387906668
pharmgkbrs387906668
gwascentralrs387906668
openSNPrs387906668
23andMers387906668
23andMe allrs387906668
SNP Nexus

SNPshotrs387906668
SNPdbers387906668
MSV3drs387906668
GWAS Ctlgrs387906668
Max Magnitude0
ClinVar
Risk rs387906668(T;T)
Alt rs387906668(T;T)
Reference rs387906668(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.11687654G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022705.26,