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: rs1169304
rs1169304
1 1.000 0.080 12 120999418 missense variant T/C snv 0.82 0.75 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1369531486
rs1369531486
1 1.000 0.080 5 134143008 stop gained C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs137853238
rs137853238
6 0.807 0.200 12 120994265 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs2464196
rs2464196
17 0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27 0.010 1.000 1 2015 2015
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs769086289
rs769086289
1 1.000 0.080 12 120993678 stop gained C/A;T snv 3.6E-05; 8.0E-06 0.010 1.000 1 2003 2003