Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894478
rs104894478
SIX1 ; MIR9718
C 0.700 CausalMutation CLINVAR Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 19497856

2009
dbSNP: rs104894478
rs104894478
SIX1 ; MIR9718
C 0.700 CausalMutation CLINVAR SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 15141091

2004
dbSNP: rs1060499595
rs1060499595
SIX1 ; MIR9718
A 0.700 GeneticVariation CLINVAR

dbSNP: rs797044960
rs797044960
SIX1 ; MIR9718
T 0.700 CausalMutation CLINVAR

dbSNP: rs80356460
rs80356460
SIX1 ; MIR9718
T 0.700 CausalMutation CLINVAR