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rs878853275

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853275(A;A)
Make rs878853275(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154435762
GeneATP6AP1, GDI1
is asnp
is mentioned by
dbSNPrs878853275
ebirs878853275
HLIrs878853275
Exacrs878853275
Varsomers878853275
Maprs878853275
PheGenIrs878853275
hapmaprs878853275
1000 genomesrs878853275
hgdprs878853275
ensemblrs878853275
gopubmedrs878853275
geneviewrs878853275
scholarrs878853275
googlers878853275
pharmgkbrs878853275
gwascentralrs878853275
openSNPrs878853275
23andMers878853275
23andMe allrs878853275
SNP Nexus

SNPshotrs878853275
SNPdbers878853275
MSV3drs878853275
GWAS Ctlgrs878853275
Max Magnitude0
ClinVar
Risk rs878853275(A;A)
Alt rs878853275(A;A)
Reference rs878853275(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.153664108G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000225137.1,