Source: ALL
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: rs651386
rs651386 		1 1.000 0.080 1 170622169 intron variant A/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs762624
rs762624
CDKN1A ; DINOL
4 0.851 0.280 6 36677811 non coding transcript exon variant A/C;T snv 0.37; 2.4E-05 0.700 1.000 1 2018 2018
dbSNP: rs3807989
rs3807989
CAV1
2 1.000 0.080 7 116546187 intron variant A/G snv 0.53 0.870 0.875 8 2012 2019
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.050 1.000 5 2003 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.050 1.000 5 2004 2015
dbSNP: rs11598047
rs11598047
NEURL1
1 1.000 0.080 10 103582915 non coding transcript exon variant A/G snv 0.16 0.700 1.000 3 2017 2018
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.030 1.000 3 2010 2014
dbSNP: rs1906617
rs1906617 		1 1.000 0.080 4 110774658 intergenic variant A/G snv 0.17 0.030 1.000 3 2017 2017
dbSNP: rs2288327
rs2288327
TTN ; TTN-AS1
1 1.000 0.080 2 178546938 intron variant A/G snv 0.23 0.22 0.700 1.000 3 2018 2018
dbSNP: rs7164883
rs7164883
HCN4
1 1.000 0.080 15 73359833 intron variant A/G snv 0.21 0.820 1.000 3 2012 2019
dbSNP: rs10520260
rs10520260
HAND2
1 1.000 0.080 4 173526198 3 prime UTR variant A/G snv 0.27 0.700 1.000 2 2018 2018
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.020 1.000 2 2009 2016
dbSNP: rs1131820
rs1131820
KCNN3
2 0.925 0.080 1 154772376 synonymous variant A/G snv 0.77 0.71 0.020 1.000 2 2011 2014
dbSNP: rs11708215
rs11708215
LOC101927942
1 1.000 0.080 3 149225477 intron variant A/G snv 0.19 0.020 1.000 2 2014 2017
dbSNP: rs12908004
rs12908004 		1 1.000 0.080 15 80384583 intron variant A/G snv 0.17 0.700 1.000 2 2018 2018
dbSNP: rs13141190
rs13141190 		1 1.000 0.080 4 110807458 intergenic variant A/G snv 0.47 0.700 1.000 2 2007 2009
dbSNP: rs1448817
rs1448817 		1 1.000 0.080 4 110719897 intergenic variant A/G snv 0.37 0.700 1.000 2 2007 2009
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.020 0.500 2 2013 2014
dbSNP: rs2012809
rs2012809
SLC27A6 ; LOC105379168
1 1.000 0.080 5 128854670 intron variant A/G snv 0.86 0.700 1.000 2 2018 2018
dbSNP: rs2738413
rs2738413
ESR2 ; SYNE2
1 1.000 0.080 14 64213242 intron variant A/G snv 0.63 0.700 1.000 2 2018 2018
dbSNP: rs62521286
rs62521286
FBXO32
2 1.000 0.080 8 123539735 intron variant A/G snv 6.6E-02 0.700 1.000 2 2018 2018
dbSNP: rs6795970
rs6795970
SCN10A
13 0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70 0.020 1.000 2 2014 2017
dbSNP: rs7650482
rs7650482
CAND2
1 1.000 0.080 3 12800305 intron variant A/G snv 0.68 0.700 1.000 2 2018 2018
dbSNP: rs10458660
rs10458660
LRMDA
1 1.000 0.080 10 76176818 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs10479177
rs10479177
FAM13B
1 1.000 0.080 5 138052751 upstream gene variant A/G snv 0.30 0.700 1.000 1 2018 2018