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: rs121918382
rs121918382
3 0.925 0.080 11 116832816 missense variant A/G snv 4.0E-06 0.010 1.000 1 1991 1991
dbSNP: rs1352056360
rs1352056360
2 0.925 0.080 16 67940467 missense variant C/G snv 1.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs149480979
rs149480979
1 1.000 0.080 20 38132407 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2294213
rs2294213
2 0.925 0.080 20 45912053 intron variant C/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs2303790
rs2303790
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.010 1.000 1 2000 2000