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: rs1953600
rs1953600
1 1.000 0.040 10 80151969 3 prime UTR variant C/T snv 0.37 0.800 1.000 2 2008 2013
dbSNP: rs1049550
rs1049550
4 0.882 0.160 10 80166946 missense variant G/A;C snv 0.42; 4.2E-06 0.770 1.000 7 2008 2018
dbSNP: rs2573346
rs2573346
1 1.000 0.040 10 80158285 intron variant G/A snv 0.36 0.710 1.000 2 2008 2016
dbSNP: rs2784773
rs2784773
1 1.000 0.040 10 80160044 intron variant T/C snv 0.63 0.700 1.000 1 2008 2008
dbSNP: rs7071579
rs7071579
1 1.000 0.040 10 80150522 downstream gene variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs7091565
rs7091565
1 1.000 0.040 10 80153805 3 prime UTR variant C/T snv 0.48 0.700 1.000 1 2008 2008
dbSNP: rs2573351
rs2573351
1 1.000 0.040 10 80171685 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs2819941
rs2819941
1 1.000 0.040 10 80201265 intron variant C/T snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs61860052
rs61860052
2 0.925 0.080 10 80201955 intron variant C/A snv 6.4E-02 0.010 1.000 1 2013 2013