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: rs10213171
rs10213171
ARHGAP10
1 1.000 0.080 4 148016386 intron variant C/G snv 0.12 0.700 1.000 2 2018 2018
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.710 1.000 2 2011 2018
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: rs10749053
rs10749053
RBM20
1 1.000 0.080 10 110816937 intron variant T/A;C snv 0.700 1.000 2 2018 2018
dbSNP: rs10753933
rs10753933
PPFIA4
1 1.000 0.080 1 203057086 intron variant T/G snv 0.47 0.700 1.000 2 2018 2018
dbSNP: rs10773657
rs10773657
HIP1R
1 1.000 0.080 12 122843353 intron variant C/A snv 0.81 0.700 1.000 2 2018 2018
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: rs1152591
rs1152591
ESR2 ; SYNE2
1 1.000 0.080 14 64214130 intron variant A/C;G;T snv 0.800 1.000 2 2012 2017
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: rs117984853
rs117984853 		1 1.000 0.080 6 149077964 downstream gene variant G/T snv 6.5E-02 0.700 1.000 2 2018 2018
dbSNP: rs12044963
rs12044963
KCND3
2 1.000 0.080 1 111849738 intron variant G/T snv 0.10 0.700 1.000 2 2017 2018
dbSNP: rs12809354
rs12809354
PKP2
1 1.000 0.080 12 32825503 intron variant T/C snv 0.14 0.700 1.000 2 2018 2018
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: rs133902
rs133902
MYO18B
1 1.000 0.080 22 25768112 splice region variant C/G;T snv 8.7E-06; 0.54 0.700 1.000 2 2018 2018
dbSNP: rs140185678
rs140185678
RPL3L
1 1.000 0.080 16 1953015 missense variant G/A snv 2.5E-02 2.5E-02 0.700 1.000 2 2018 2018
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: rs146518726
rs146518726 		1 1.000 0.080 1 51069367 intergenic variant G/A snv 1.8E-02 0.700 1.000 2 2018 2018
dbSNP: rs147750704
rs147750704
KCNJ2
3 0.925 0.080 17 70175316 missense variant G/A snv 1.6E-04 7.0E-05 0.020 1.000 2 2005 2009
dbSNP: rs17042171
rs17042171 		1 1.000 0.080 4 110787131 intergenic variant C/A snv 0.19 0.810 1.000 2 2009 2016
dbSNP: rs17570669
rs17570669 		1 1.000 0.080 4 110815726 intergenic variant A/T snv 5.6E-02 0.710 1.000 2 2011 2018
dbSNP: rs1957021
rs1957021
AKAP6
1 1.000 0.080 14 32455299 intron variant T/A;C snv 0.700 1.000 2 2018 2018
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: rs2040862
rs2040862
WNT8A
1 1.000 0.080 5 138084300 intron variant C/T snv 0.13 0.13 0.800 1.000 2 2012 2018
dbSNP: rs2129977
rs2129977 		1 1.000 0.080 4 110791276 upstream gene variant A/G;T snv 0.700 1.000 2 2017 2018