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rs1050501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs1050501(C;C)
Make rs1050501(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161674008
GeneFCGR2B
is asnp
is mentioned by
dbSNPrs1050501
ebirs1050501
HLIrs1050501
Exacrs1050501
Varsomers1050501
Maprs1050501
PheGenIrs1050501
hapmaprs1050501
1000 genomesrs1050501
hgdprs1050501
ensemblrs1050501
gopubmedrs1050501
geneviewrs1050501
scholarrs1050501
googlers1050501
pharmgkbrs1050501
gwascentralrs1050501
openSNPrs1050501
23andMers1050501
23andMe allrs1050501
SNP Nexus

SNPshotrs1050501
SNPdbers1050501
MSV3drs1050501
GWAS Ctlgrs1050501
GMAF0.1869
Max Magnitude0

[PMID 19640933] FCGR2B gene polymorphism rather than FCGR2A, FCGR3A and FCGR3B is associated with anti-GBM disease in Chinese

OMIM604590
Desc
Variant0002
Relatedalso

[PMID 22416796] The FCGR2B rs10917661 polymorphism may confer susceptibility to ankylosing spondylitis in Han Chinese: a case-control study

ClinVar
Risk rs1050501(C;C)
Alt rs1050501(C;C)
Reference rs1050501(T;T)
Significance Other
Disease Systemic lupus erythematosus Malaria
Variation info
Gene FCGR2B
CLNDBN Systemic lupus erythematosus, susceptibility to Malaria, resistance to
Reversed 0
HGVS NC_000001.10:g.161643798T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005800.2, RCV000005801.2,


[PMID 16531013] Association of Fcgamma receptor IIB gene polymorphism with genetic susceptibility to systemic lupus erythematosus in Chinese populations--a family-based association study.

[PMID 18625651] Genetic susceptibility and haplotype analysis between Fcgamma receptor IIB and IIIA gene with systemic lupus erythematosus in Chinese population.

[PMID 19421223OA-icon.png] Fcgamma receptors: structure, function and role as genetic risk factors in SLE.

[PMID 20508037OA-icon.png] Copy number, linkage disequilibrium and disease association in the FCGR locus.

GET Evidence
FCGR2B-I232T
aa_change Ile232Thr
aa_change_short I232T
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.132664
summary A study in an Asian population associates this variant with increased susceptibility to anti-glomerular basement membrane antibody disease (anti-GBM), an autoimmune disease that causes bleeding, lung, and kidney disease. Even for carriers of this variation, anti-GBM is quite rare -- this variant only increases absolute risk for the disease by 0.1-0.2%. A much weaker finding seems to correlate homozygosity for the variant with increased risk for systemic lupus erythematosus (SLE); if true, the amount of increased risk due to the variant is unclear.



[PMID 24586589OA-icon.png] Functional fcgamma receptor polymorphisms are associated with human allergy [PMID 22922574] Fcgamma receptor polymorphisms do not predict response to intravenous immunoglobulin in myasthenia gravis.