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: rs59151893
rs59151893
3 0.882 0.080 17 41624235 missense variant T/C snv 0.700 0
dbSNP: rs59685571
rs59685571
3 0.925 0.080 12 52492676 missense variant G/T snv 0.030 1.000 3 2008 2018
dbSNP: rs1255098084
rs1255098084
1 1.000 0.080 12 52473222 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs185606180
rs185606180
1 1.000 0.080 12 52599029 missense variant C/G;T snv 1.3E-04; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs267607468
rs267607468
3 0.882 0.160 12 52488371 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs267607473
rs267607473
3 0.882 0.160 12 52447821 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs28928895
rs28928895
3 0.882 0.120 17 41612306 missense variant A/G;T snv 0.010 1.000 1 2014 2014