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rs532781899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 4 possible immunodeficiency
(-;G) 3 carrier of one allele for possible 2-allele immunodeficiency mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome1
Position27373180
GeneFCN3
is asnp
is mentioned by
dbSNPrs532781899
ebirs532781899
HLIrs532781899
Exacrs532781899
Varsomers532781899
Maprs532781899
PheGenIrs532781899
hapmaprs532781899
1000 genomesrs532781899
hgdprs532781899
ensemblrs532781899
gopubmedrs532781899
geneviewrs532781899
scholarrs532781899
googlers532781899
pharmgkbrs532781899
gwascentralrs532781899
openSNPrs532781899
23andMers532781899
23andMe allrs532781899
SNP Nexus

SNPshotrs532781899
SNPdbers532781899
MSV3drs532781899
GWAS Ctlgrs532781899
Max Magnitude4

This SNP was more commonly known formerly rs28357092, which is how both OMIM and 23andMe refer to it.

A single publication based on a single patient concludes that carrying two copies of the deletion form of rs532781899 leads to immunodeficiency due to ficolin-3 deficiency.[PMID 19535802OA-icon.png]. To date there does not appear to be another publication replicating this finding, nor are there functional studies in mice or in vitro, and so the finding should probably be considered preliminary.


ClinVar
Risk rs532781899(;)
Alt rs532781899(;)
Reference rs532781899(G;G)
Significance Pathogenic
Disease Immunodeficiency due to ficolin 3 deficiency
Variation info
Gene FCN3
CLNDBN Immunodeficiency due to ficolin 3 deficiency
Reversed 0
HGVS NC_000001.10:g.27699671delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005603.4,