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: rs11689011
rs11689011
EPAS1
2 1.000 0.120 2 46314037 intron variant T/A;C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11894252
rs11894252
EPAS1
3 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs13242816
rs13242816
CAV1
1 7 116549322 intron variant C/T snv 7.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs1467026
rs1467026 		1 3 12789276 upstream gene variant G/A snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs148020424
rs148020424
TBX5
1 12 114367252 intron variant -/AAAGAAAAGAGAAA;AGAAA ins 0.700 1.000 1 2017 2017
dbSNP: rs174577
rs174577
FADS2
13 1.000 0.080 11 61837342 intron variant C/A snv 0.38 0.700 1.000 1 2014 2014
dbSNP: rs1895582
rs1895582
TBX5
2 12 114369230 intron variant G/A snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs2285703
rs2285703
CAMK2D
1 4 113467664 intron variant A/G snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs2798334
rs2798334
KCND3
2 1 111894722 intron variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs3801995
rs3801995
CAV1
1 7 116550543 intron variant C/T snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs3922844
rs3922844
SCN5A
3 3 38582762 intron variant T/C snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs41312411
rs41312411
SCN5A
2 3 38579746 intron variant C/G snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs4276421
rs4276421 		1 5 45801977 intergenic variant C/T snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs452036
rs452036
MYH6
3 14 23396676 intron variant G/A;C snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs562408
rs562408
SSBP3
1 1 54276945 intron variant A/G snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs6790396
rs6790396
SCN10A
3 1.000 0.080 3 38730434 intron variant C/G snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs6801957
rs6801957
SCN10A
7 1.000 0.080 3 38725824 intron variant T/C snv 0.67 0.700 1.000 1 2014 2014
dbSNP: rs7312625
rs7312625
TBX5
3 1.000 0.080 12 114362169 intron variant G/A snv 0.71 0.700 1.000 1 2017 2017