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rs781050795

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs781050795(C;T)
Make rs781050795(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11576780
GeneACP5, ZNF627
is asnp
is mentioned by
dbSNPrs781050795
ebirs781050795
HLIrs781050795
Exacrs781050795
Varsomers781050795
Maprs781050795
PheGenIrs781050795
hapmaprs781050795
1000 genomesrs781050795
hgdprs781050795
ensemblrs781050795
gopubmedrs781050795
geneviewrs781050795
scholarrs781050795
googlers781050795
pharmgkbrs781050795
gwascentralrs781050795
openSNPrs781050795
23andMers781050795
23andMe allrs781050795
SNP Nexus

SNPshotrs781050795
SNPdbers781050795
MSV3drs781050795
GWAS Ctlgrs781050795
Max Magnitude0
ClinVar
Risk rs781050795(T;T)
Alt rs781050795(T;T)
Reference rs781050795(C;C)
Significance Pathogenic
Disease Spondyloenchondrodysplasia with immune dysregulation
Variation info
Gene ACP5
CLNDBN Spondyloenchondrodysplasia with immune dysregulation
Reversed 0
HGVS NC_000019.9:g.11687595C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022709.22,