rs532781899

plus

Geno	Mag	Summary
(-;-)	4	possible immunodeficiency
(-;G)	3	carrier of one allele for possible 2-allele immunodeficiency mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

1

Position

27373180

Gene

FCN3

is a	snp
is	mentioned by
dbSNP	rs532781899
dbSNP (classic)	rs532781899
ClinGen	rs532781899
ebi	rs532781899
HLI	rs532781899
Exac	rs532781899
Gnomad	rs532781899
Varsome	rs532781899
LitVar	rs532781899
Map	rs532781899
PheGenI	rs532781899
Biobank	rs532781899
1000 genomes	rs532781899
hgdp	rs532781899
ensembl	rs532781899
geneview	rs532781899
scholar	rs532781899
google	rs532781899
pharmgkb	rs532781899
gwascentral	rs532781899
openSNP	rs532781899
23andMe	rs532781899
SNPshot	rs532781899
SNPdbe	rs532781899
MSV3d	rs532781899
GWAS Ctlg	rs532781899

Merged from

Rs28357092

Max Magnitude

4

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 19535802 ]. 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	RCV000005603.5,