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rs878853278

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853278(A;G)
Make rs878853278(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154435153
GeneATP6AP1, GDI1
is asnp
is mentioned by
dbSNPrs878853278
ebirs878853278
HLIrs878853278
Exacrs878853278
Varsomers878853278
Maprs878853278
PheGenIrs878853278
hapmaprs878853278
1000 genomesrs878853278
hgdprs878853278
ensemblrs878853278
gopubmedrs878853278
geneviewrs878853278
scholarrs878853278
googlers878853278
pharmgkbrs878853278
gwascentralrs878853278
openSNPrs878853278
23andMers878853278
23andMe allrs878853278
SNP Nexus

SNPshotrs878853278
SNPdbers878853278
MSV3drs878853278
GWAS Ctlgrs878853278
Max Magnitude0
ClinVar
Risk rs878853278(G;G)
Alt rs878853278(G;G)
Reference rs878853278(A;A)
Significance Pathogenic
Disease Immunodeficiency due to ficolin 3 deficiency
Variation info
Gene ATP6AP1 GDI1
CLNDBN Immunodeficiency due to ficolin 3 deficiency
Reversed 0
HGVS NC_000023.10:g.153663499A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000225189.1,