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: rs199473082
rs199473082
1 1.000 0.080 3 38609824 missense variant G/A;C snv 0.800 1.000 25 1998 2017
dbSNP: rs199473086
rs199473086
1 1.000 0.080 3 38609788 missense variant C/T snv 4.0E-06; 2.4E-05 3.5E-05 0.700 1.000 25 1998 2017
dbSNP: rs199473620
rs199473620
1 1.000 0.080 3 38554372 stop gained C/A;T snv 0.800 1.000 25 1998 2017
dbSNP: rs199473637
rs199473637
1 1.000 0.080 3 38550569 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 25 1998 2017
dbSNP: rs28937318
rs28937318
1 0.925 0.080 3 38606709 missense variant C/A;T snv 0.800 1.000 25 1998 2017
dbSNP: rs137854602
rs137854602
1 0.925 0.080 3 38555664 missense variant G/A snv 5.6E-05 1.4E-05 0.800 1.000 24 1998 2017
dbSNP: rs199473083
rs199473083
1 0.925 0.080 3 38609823 missense variant C/T snv 1.6E-05 0.800 1.000 24 1998 2017
dbSNP: rs199473171
rs199473171
1 1.000 0.080 3 38585801 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 24 1998 2017
dbSNP: rs137854603
rs137854603
1 1.000 0.080 3 38550602 missense variant C/T snv 6.0E-05 2.8E-05 0.800 1.000 21 1998 2016
dbSNP: rs137854616
rs137854616
1 1.000 0.080 3 38566465 missense variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 21 1998 2016
dbSNP: rs193922726
rs193922726
1 1.000 0.080 3 38551188 missense variant G/A;C snv 6.0E-05 0.700 1.000 21 1998 2016
dbSNP: rs199473050
rs199473050
1 1.000 0.080 3 38633098 missense variant A/C snv 4.4E-05 1.4E-05 0.700 1.000 21 1998 2016
dbSNP: rs199473052
rs199473052
1 1.000 0.080 3 38630425 missense variant A/G snv 0.700 1.000 21 1998 2016
dbSNP: rs199473053
rs199473053
1 1.000 0.080 3 38630422 missense variant A/C snv 0.700 1.000 21 1998 2016
dbSNP: rs199473054
rs199473054
1 1.000 0.080 3 38630420 missense variant C/G;T snv 2.0E-05; 2.8E-05 0.700 1.000 21 1998 2016
dbSNP: rs199473056
rs199473056
1 1.000 0.080 3 38630376 missense variant G/A;T snv 3.6E-05; 4.0E-06 0.700 1.000 21 1998 2016
dbSNP: rs199473058
rs199473058
1 0.925 0.080 3 38630341 missense variant C/T snv 4.0E-06 0.700 1.000 21 1998 2016
dbSNP: rs199473063
rs199473063
1 1.000 0.080 3 38620929 missense variant C/G snv 0.700 1.000 21 1998 2016
dbSNP: rs199473065
rs199473065
1 1.000 0.080 3 38620921 missense variant G/C snv 0.700 1.000 21 1998 2016
dbSNP: rs199473066
rs199473066
1 1.000 0.080 3 38620910 missense variant A/G snv 0.700 1.000 21 1998 2016
dbSNP: rs199473067
rs199473067
1 1.000 0.080 3 38620900 missense variant G/A;T snv 1.6E-05 0.700 1.000 21 1998 2016
dbSNP: rs199473074
rs199473074
1 1.000 0.080 3 38613758 missense variant T/C snv 4.2E-06 0.700 1.000 21 1998 2016
dbSNP: rs199473079
rs199473079
1 1.000 0.080 3 38609860 missense variant G/T snv 0.700 1.000 21 1998 2016
dbSNP: rs199473081
rs199473081
1 1.000 0.080 3 38609841 missense variant A/T snv 0.700 1.000 21 1998 2016
dbSNP: rs199473088
rs199473088
1 1.000 0.080 3 38609770 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 21 1998 2016