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: rs28936375
rs28936375
15 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
dbSNP: rs80338903
rs80338903
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.050 1.000 5 2010 2020
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs10877969
rs10877969
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.010 < 0.001 1 2019 2019
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2013 2013
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800866
rs1800866
8 0.851 0.080 9 34637693 missense variant T/G snv 0.20 0.18 0.010 < 0.001 1 2019 2019
dbSNP: rs200207721
rs200207721
2 6 154039743 missense variant A/G snv 1.2E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs3781719
rs3781719
2 1.000 0.040 11 14972978 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs41292285
rs41292285
3 1.000 0.040 16 1208033 missense variant G/T snv 7.3E-03 7.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs540638287
rs540638287
3 1.000 0.040 16 1204313 missense variant C/T snv 4.3E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs614230
rs614230
2 1.000 0.040 16 57385374 downstream gene variant C/T snv 0.61 0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2010 2010
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs769540300
rs769540300
8 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs77114424
rs77114424
2 6 154039497 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010