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: rs74315410
rs74315410
2 1.000 0.120 20 4699612 missense variant G/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs768562045
rs768562045
1 20 4699821 missense variant A/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs28933385
rs28933385
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.800 0.944 18 1995 2019
dbSNP: rs74315401
rs74315401
32 0.683 0.320 20 4699525 missense variant C/T snv 0.800 1.000 15 1999 2019
dbSNP: rs74315403
rs74315403
10 0.790 0.200 20 4699752 missense variant G/A snv 0.800 1.000 14 2002 2019
dbSNP: rs80356710
rs80356710
3 0.925 0.040 20 4699655 stop gained T/G snv 0.730 1.000 3 2011 2019
dbSNP: rs1178466848
rs1178466848
4 0.925 0.120 20 4699785 missense variant G/A snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1292160648
rs1292160648
1 20 4699738 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs775144659
rs775144659
1 20 4699816 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs267606980
rs267606980
2 1.000 0.080 20 4699600 missense variant G/T snv 4.0E-06 0.030 1.000 3 2017 2020