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: rs121918493
rs121918493
1 1.000 0.080 10 121517420 missense variant T/C snv 0.800 1.000 18 1994 2016
dbSNP: rs121918489
rs121918489
1 1.000 0.080 10 121517385 missense variant A/G snv 0.800 1.000 16 1994 2007
dbSNP: rs121918500
rs121918500
1 1.000 0.080 10 121520044 missense variant T/C snv 0.800 1.000 16 1994 2007
dbSNP: rs1554930684
rs1554930684
1 1.000 0.080 10 121520016 missense variant T/C snv 0.700 1.000 16 1994 2007
dbSNP: rs387906676
rs387906676
1 1.000 0.080 10 121517394 missense variant C/G;T snv 0.800 1.000 16 1994 2007
dbSNP: rs1057519039
rs1057519039
1 1.000 0.080 10 121520049 missense variant C/G snv 0.700 0
dbSNP: rs1057519040
rs1057519040
1 1.000 0.080 10 121519995 missense variant T/C snv 0.700 0
dbSNP: rs1057519042
rs1057519042
1 1.000 0.080 10 121517396 missense variant T/C snv 0.700 0
dbSNP: rs779326224
rs779326224
1 1.000 0.080 10 121520130 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121918495
rs121918495
2 0.925 0.080 10 121517382 missense variant T/G snv 0.700 1.000 16 1994 2007
dbSNP: rs1265366960
rs1265366960
2 0.925 0.080 10 121503857 missense variant G/C snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1354205157
rs1354205157
2 0.925 0.080 10 121565633 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1490997619
rs1490997619
2 0.925 0.080 10 121488065 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs751047267
rs751047267
2 0.925 0.080 10 121496555 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs780497781
rs780497781
2 0.925 0.080 10 121479954 missense variant C/T snv 2.4E-05 2.8E-05 0.010 1.000 1 1995 1995
dbSNP: rs1057519036
rs1057519036
2 0.925 0.080 10 121520092 missense variant A/C snv 0.800 0
dbSNP: rs879253721
rs879253721
2 0.925 0.080 10 121517316 splice region variant T/C snv 0.700 0
dbSNP: rs121918492
rs121918492
3 0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06 0.810 1.000 16 1994 2007
dbSNP: rs1057519038
rs1057519038
3 0.882 0.120 10 121520076 missense variant T/C snv 0.710 1.000 1 2002 2002
dbSNP: rs121918507
rs121918507
3 0.882 0.280 10 121498591 missense variant T/C snv 0.710 1.000 1 2005 2005
dbSNP: rs974173968
rs974173968
3 0.882 0.080 10 121551382 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121918496
rs121918496
4 0.851 0.120 10 121517377 missense variant G/C snv 0.820 1.000 17 1994 2007
dbSNP: rs1057519043
rs1057519043
4 0.851 0.120 10 121517391 missense variant C/A;G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs777169135
rs777169135
4 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121918505
rs121918505
5 0.851 0.080 10 121520119 missense variant A/G snv 0.810 1.000 17 1994 2019