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: 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 2006 2006
dbSNP: rs2229902
rs2229902
4 0.851 0.160 3 7452730 missense variant A/T snv 0.31 0.30 0.010 1.000 1 2002 2002
dbSNP: rs29230
rs29230
6 0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18 0.010 < 0.001 1 2006 2006
dbSNP: rs45573936
rs45573936
1 1.000 0.120 6 44230625 missense variant T/C snv 1.8E-02 1.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 1999 1999