Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3914132
rs3914132
RELN
0.810 GeneticVariation BEFREE Recently, a reelin gene, SNP rs3914132, located in intron 2, was shown to be associated with otosclerosis in a European population. 20882487

2010
dbSNP: rs3914132
rs3914132
RELN
0.810 GeneticVariation GWASDB A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. 19230858

2009
dbSNP: rs3914132
rs3914132
RELN
0.810 GeneticVariation GWASCAT A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. 19230858

2009
dbSNP: rs1234261
rs1234261
ZNF383
0.700 GeneticVariation GWASDB A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. 19230858

2009
dbSNP: rs1800472
rs1800472
TGFB1
0.040 GeneticVariation BEFREE Our findings strengthen the association of TGFB1 (rs1800472) with otosclerosis and support a relationship between RELN and familial otosclerosis only, which may explain previous variable replications. 29728750

2018
dbSNP: rs1800472
rs1800472
TGFB1
0.040 GeneticVariation BEFREE Our findings strengthen the association of TGFB1 (rs1800472) with otosclerosis. 24643032

2014
dbSNP: rs1800472
rs1800472
TGFB1
0.040 GeneticVariation BEFREE The coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population. 21777208

2011
dbSNP: rs1800472
rs1800472
TGFB1
0.040 GeneticVariation BEFREE The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. 17588962

2007
dbSNP: rs39399
rs39399
RELN
0.010 GeneticVariation BEFREE However, a significant association (p = 0.0057) was detected between one RELN SNP (rs39399) and otosclerosis in familial patients. 29728750

2018
dbSNP: rs1323853167
rs1323853167
TNFSF11
0.010 GeneticVariation BEFREE Furthermore, meta-analysis provided evidence of association of the c.9C>G polymorphism with OTSC. 25998045

2015
dbSNP: rs2073618
rs2073618
TNFRSF11B ; COLEC10
0.010 GeneticVariation BEFREE Furthermore, meta-analysis provided evidence of association of the c.9C>G polymorphism with OTSC. 25998045

2015
dbSNP: rs39335
rs39335
RELN
0.010 GeneticVariation BEFREE To analyze the role of reelin in otosclerosis, it has been studied in a case-control analysis for the polymorphism rs39335 in a southern Italy population. 24227897

2013
dbSNP: rs11327935
rs11327935
COL1A1
0.010 GeneticVariation BEFREE We found an association of rs11327935 in COL1A1 with otosclerosis that was shown to be sex specific. 21777208

2011
dbSNP: rs1352713791
rs1352713791
BMP4 ; MIR5580
0.010 GeneticVariation BEFREE The coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population. 21777208

2011
dbSNP: rs1267969615
rs1267969615
ACE
0.010 GeneticVariation BEFREE A significant association was found between otosclerosis and the AGT M235T and the ACE I/D polymorphisms. 18491423

2008
dbSNP: rs699
rs699
AGT
0.010 GeneticVariation BEFREE A significant association was found between otosclerosis and the AGT M235T and the ACE I/D polymorphisms. 18491423

2008