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rs878853277

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853277(A;A)
Make rs878853277(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154435338
GeneATP6AP1, GDI1
is asnp
is mentioned by
dbSNPrs878853277
ebirs878853277
HLIrs878853277
Exacrs878853277
Varsomers878853277
Maprs878853277
PheGenIrs878853277
hapmaprs878853277
1000 genomesrs878853277
hgdprs878853277
ensemblrs878853277
gopubmedrs878853277
geneviewrs878853277
scholarrs878853277
googlers878853277
pharmgkbrs878853277
gwascentralrs878853277
openSNPrs878853277
23andMers878853277
23andMe allrs878853277
SNP Nexus

SNPshotrs878853277
SNPdbers878853277
MSV3drs878853277
GWAS Ctlgrs878853277
Max Magnitude0
ClinVar
Risk rs878853277(A;A)
Alt rs878853277(A;A)
Reference rs878853277(G;G)
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.153663684G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000225332.1,