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: rs2746419
rs2746419
1 6 135332717 intron variant A/C snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2011 2013
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2011 2018
dbSNP: rs1063348
rs1063348
2 1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs2858829
rs2858829
2 1.000 0.040 6 116447754 intron variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs59882675
rs59882675
BTC
1 4 74763902 intron variant A/G snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2004 2004
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2011 2013
dbSNP: rs33388
rs33388
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2008 2008
dbSNP: rs2858317
rs2858317
1 6 32694503 intergenic variant C/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs397514479
rs397514479
2 1.000 14 73961339 missense variant C/A snv 0.010 1.000 1 2020 2020
dbSNP: rs28940580
rs28940580
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs9273542
rs9273542
1 6 32661035 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs33389
rs33389
4 0.882 0.280 5 143320934 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs61747728
rs61747728
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.060 0.833 6 2004 2019
dbSNP: rs121912491
rs121912491
4 0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1437439236
rs1437439236
3 0.925 0.080 10 70871945 missense variant C/T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs28940578
rs28940578
16 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.700 1.000 1 2005 2005
dbSNP: rs3124591
rs3124591
6 0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs487575
rs487575
1 3 187880609 intergenic variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs199840952
rs199840952
7 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs267606954
rs267606954
3 1.000 0.080 10 94032007 stop gained C/T snv 2.4E-05 0.700 0
dbSNP: rs1569504068
rs1569504068
2 1.000 X 108655388 frameshift variant G/- del 0.700 0
dbSNP: rs267606919
rs267606919
2 1.000 0.080 19 35831056 stop gained G/A snv 9.9E-05 0.700 1.000 3 2002 2008
dbSNP: rs10518133
rs10518133
1 4 75025495 intron variant G/A snv 9.7E-02 0.700 1.000 1 2019 2019