Source: BEFREE ×
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: rs13078881
rs13078881
BTD
1 1.000 0.080 3 15645186 missense variant G/C;T snv 3.2E-02 0.860 0.926 6 1997 2019
dbSNP: rs104893687
rs104893687
BTD
1 1.000 0.080 3 15635614 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 1 2000 2016
dbSNP: rs146015592
rs146015592
BTD
1 1.000 0.080 3 15644326 missense variant G/A snv 1.1E-04 1.5E-04 0.710 1.000 1 1997 2018
dbSNP: rs397514416
rs397514416
BTD
1 1.000 0.080 3 15645170 stop gained T/A snv 0.710 1.000 1 2001 2019