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: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1300339524
rs1300339524
1 1.000 0.080 15 74410827 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1458235863
rs1458235863
4 0.925 0.160 8 38412424 3 prime UTR variant G/A snv 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs147436181
rs147436181
1 1.000 0.080 7 84005396 missense variant C/T snv 1.4E-02 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs200895370
rs200895370
2 0.925 0.160 15 74417900 missense variant G/A;C snv 4.0E-04; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs747333248
rs747333248
2 0.925 0.160 8 38418234 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs751918319
rs751918319
2 0.925 0.160 X 8539692 missense variant C/T snv 2.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs755580322
rs755580322
1 1.000 0.080 8 38415905 frameshift variant -/GTGAAGAT ins 0.010 1.000 1 2014 2014
dbSNP: rs775445657
rs775445657
1 1.000 0.080 8 38418280 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs776572648
rs776572648
2 0.925 0.160 15 74411886 missense variant C/T snv 9.2E-05 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs778861510
rs778861510
1 1.000 0.080 8 38418337 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs780153672
rs780153672
2 0.925 0.160 8 38428352 missense variant G/A snv 2.8E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs886039523
rs886039523
1 1.000 0.080 8 60741583 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs886042254
rs886042254
2 0.925 0.160 8 38428079 missense variant A/G snv 0.010 1.000 1 2014 2014