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rs878853276

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853276(C;C)
Make rs878853276(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154432333
GeneATP6AP1
is asnp
is mentioned by
dbSNPrs878853276
ebirs878853276
HLIrs878853276
Exacrs878853276
Varsomers878853276
Maprs878853276
PheGenIrs878853276
hapmaprs878853276
1000 genomesrs878853276
hgdprs878853276
ensemblrs878853276
gopubmedrs878853276
geneviewrs878853276
scholarrs878853276
googlers878853276
pharmgkbrs878853276
gwascentralrs878853276
openSNPrs878853276
23andMers878853276
23andMe allrs878853276
SNP Nexus

SNPshotrs878853276
SNPdbers878853276
MSV3drs878853276
GWAS Ctlgrs878853276
Max Magnitude0
ClinVar
Risk rs878853276(C;C)
Alt rs878853276(C;C)
Reference rs878853276(T;T)
Significance Pathogenic
Disease Immunodeficiency due to ficolin 3 deficiency
Variation info
Gene ATP6AP1
CLNDBN Immunodeficiency due to ficolin 3 deficiency
Reversed 0
HGVS NC_000023.10:g.153660679T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000225250.1,