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: rs12646351
rs12646351
10 0.790 0.080 4 145819473 intron variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17806780
rs17806780
10 0.790 0.080 4 145811502 intron variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs704017
rs704017
10 0.776 0.080 10 79059375 intron variant A/G snv 0.55 0.700 1.000 6 2014 2019
dbSNP: rs1250567
rs1250567
10 0.776 0.080 10 79286508 intron variant T/C snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs10511330
rs10511330
10 0.776 0.080 3 114402172 intron variant T/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1912804
rs1912804
9 0.790 0.080 16 78592686 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12241008
rs12241008
16 0.716 0.160 10 112520943 intron variant T/C snv 0.13 0.700 1.000 3 2014 2019
dbSNP: rs10506868
rs10506868
16 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs12246635
rs12246635
10 0.776 0.080 10 112528860 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs12255141
rs12255141
9 0.790 0.080 10 112535133 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs117079142
rs117079142
10 0.776 0.080 8 116778675 intron variant C/A snv 3.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs76316943
rs76316943
9 0.790 0.080 8 116836068 intron variant G/A snv 1.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs11168936
rs11168936
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs751398376
rs751398376
1 1.000 0.080 2 178609836 missense variant C/A;G snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs149061352
rs149061352
TTN
1 1.000 0.080 2 178785717 missense variant G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs12143541
rs12143541
9 0.790 0.080 1 54782179 intron variant A/G snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs12144319
rs12144319
10 0.776 0.080 1 54780362 3 prime UTR variant T/C snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs1294404368
rs1294404368
1 1.000 0.080 7 98981947 missense variant C/T snv 4.4E-06 1.4E-05 0.700 0
dbSNP: rs373632999
rs373632999
1 1.000 0.080 7 98949733 missense variant G/A snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs528967912
rs528967912
1 1.000 0.080 7 98964724 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs2186607
rs2186607
10 0.776 0.080 11 101785666 intron variant T/A snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs2179593
rs2179593
11 0.790 0.080 20 44031646 intron variant C/A snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs6031311
rs6031311
10 0.776 0.080 20 44037835 intron variant C/T snv 0.73 0.700 1.000 1 2019 2019
dbSNP: rs3801081
rs3801081
9 0.790 0.080 7 47471563 intron variant A/G snv 0.68 0.700 1.000 1 2019 2019