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: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.050 1.000 5 2008 2019
dbSNP: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.020 1.000 2 2017 2019
dbSNP: rs63750092
rs63750092
3 0.882 0.120 17 46014277 missense variant A/T snv 0.010 1.000 1 2014 2014
dbSNP: rs63750096
rs63750096
1 1.000 0.120 17 45996557 missense variant G/A;T snv 6.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs63750129
rs63750129
4 0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs63750349
rs63750349
5 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63750424
rs63750424
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs63750756
rs63750756
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2006 2006