Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.020 1.000 2 2017 2017
dbSNP: rs4711998
rs4711998
16 0.708 0.360 6 52185555 upstream gene variant A/G snv 0.64 0.010 1.000 1 2017 2017
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs6908425
rs6908425
11 0.752 0.320 6 20728500 intron variant T/C snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs8193036
rs8193036
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 1.000 1 2017 2017