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rs1065489

From SNPedia

Orientationplus
Stabilizedplus
Make rs1065489(G;G)
Make rs1065489(G;T)
Make rs1065489(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196740644
GeneCFH
is asnp
is mentioned by
dbSNPrs1065489
ebirs1065489
HLIrs1065489
Exacrs1065489
Varsomers1065489
Maprs1065489
PheGenIrs1065489
hapmaprs1065489
1000 genomesrs1065489
hgdprs1065489
ensemblrs1065489
gopubmedrs1065489
geneviewrs1065489
scholarrs1065489
googlers1065489
pharmgkbrs1065489
gwascentralrs1065489
openSNPrs1065489
23andMers1065489
23andMe allrs1065489
SNP Nexus

SNPshotrs1065489
SNPdbers1065489
MSV3drs1065489
GWAS Ctlgrs1065489
GMAF0.2332
Max Magnitude
? (G;G) (G;T) (T;T) 28

[PMID 19162324] Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis Each copy of the less common T version of this SNP was associated with about 36% lower odds of meningococcal disease.

OMIM605336
DescCOMPLEMENT FACTOR H-RELATED 3; CFHR3
Variant
Relatedalso
OMIM134370
Desc
Variant
Relatedalso


[PMID 17022693] Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms.


[PMID 18483746OA-icon.png] Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.


[PMID 19187823] Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy.


[PMID 19861685OA-icon.png] Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.


[PMID 19958499OA-icon.png] A particle swarm based hybrid system for imbalanced medical data sampling.


[PMID 20694013] Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.


GET Evidence
CFH-E936D
aa_change Glu936Asp
aa_change_short E936D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.13878
summary



[PMID 23423485] Genetic variants of complement genes ficolin-2, mannose-binding lectin and complement factor H are associated with leprosy in Han Chinese from Southwest China


[PMID 24365176] Common variants in the complement factor H gene confer genetic susceptibility to central serous chorioretinopathy


[PMID 26296146] PREVALENCE OF THE COMPLEMENT FACTOR H AND GSTM1 GENES POLYMORPHISMS IN PATIENTS WITH CENTRAL SEROUS CHORIORETINOPATHY