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 2003 2003
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2003 2003
dbSNP: rs368087026
rs368087026
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1206846668
rs1206846668
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs431905504
rs431905504
9 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
dbSNP: rs1303000329
rs1303000329
4 0.851 0.080 8 13110812 missense variant G/A;T snv 4.0E-06 0.700 0