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rs3753396

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs3753396(A;G)
Make rs3753396(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position196726612
GeneCFH
is asnp
is mentioned by
dbSNPrs3753396
dbSNP (classic)rs3753396
ClinGenrs3753396
ebirs3753396
HLIrs3753396
Exacrs3753396
Gnomadrs3753396
Varsomers3753396
LitVarrs3753396
Maprs3753396
PheGenIrs3753396
Biobankrs3753396
1000 genomesrs3753396
hgdprs3753396
ensemblrs3753396
geneviewrs3753396
scholarrs3753396
googlers3753396
pharmgkbrs3753396
gwascentralrs3753396
openSNPrs3753396
23andMers3753396
SNPshotrs3753396
SNPdbers3753396
MSV3drs3753396
GWAS Ctlgrs3753396
GMAF0.2337
Max Magnitude0
? (A;A) (A;G) (G;G) 28


age related macular degeneration [PMID 18421087]


[PMID 19162324] Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis

[PMID 18048322OA-icon.png] A forest-based approach to identifying gene and gene gene interactions.

[PMID 18162041OA-icon.png] Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.

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

[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 20157618OA-icon.png] Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.


[PMID 25798599OA-icon.png] Susceptibility to Invasive Meningococcal Disease: Polymorphism of Complement System Genes and Neisseria meningitidis Factor H Binding Protein


ClinVar
Risk rs3753396(G;G)
Alt rs3753396(G;G)
Reference Rs3753396(A;A)
Significance Non-pathogenic
Disease Basal laminar drusen Mesangiocapillary glomerulonephritis Macular degeneration Atypical hemolytic uremic syndrome
Variation info
Gene CFH
CLNDBN Basal laminar drusen Mesangiocapillary glomerulonephritis, type II Macular degeneration Atypical hemolytic uremic syndrome
Reversed 0
HGVS NC_000001.10:g.196695742A>G
CLNSRC
CLNACC RCV000314917.1, RCV000368440.1, RCV000369491.1, RCV000395568.1,



[PMID 29398083] Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.