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: rs1057518960
rs1057518960
GJA1
7 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs1558027212
rs1558027212
TMCO1
7 0.827 0.320 1 165728096 frameshift variant GC/- del 0.700 0
dbSNP: rs587783446
rs587783446
CHD7
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs10863790
rs10863790 		1 1.000 0.080 1 209814702 regulatory region variant A/C snv 3.9E-02 0.800 1.000 1 2010 2010
dbSNP: rs1258763
rs1258763 		2 0.925 0.080 15 32758222 intergenic variant C/T snv 0.60 0.800 1.000 1 2010 2010
dbSNP: rs1536895
rs1536895 		1 1.000 0.080 9 104031445 intergenic variant A/G snv 9.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs17085106
rs17085106
LINC01899
1 1.000 0.080 18 71771837 intron variant G/T snv 6.3E-02 0.800 1.000 1 2009 2009
dbSNP: rs2294426
rs2294426
ADTRP
1 1.000 0.080 6 11729849 intron variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs9574565
rs9574565 		1 1.000 0.080 13 80094739 intergenic variant T/C snv 0.65 0.800 1.000 1 2010 2010
dbSNP: rs10133673
rs10133673
SLC25A21
2 0.925 0.120 14 37068147 intron variant T/C snv 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs10174126
rs10174126
SH3BP4
1 1.000 0.080 2 235052249 intron variant T/C snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs1030608
rs1030608
CCDC26
1 1.000 0.080 8 128727506 intron variant G/A snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs1030609
rs1030609
CCDC26
1 1.000 0.080 8 128727631 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1038294
rs1038294
COL8A1
2 0.925 0.120 3 99784884 intron variant A/G snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs1044516
rs1044516
IRF6 ; C1orf74
1 1.000 0.080 1 209786269 3 prime UTR variant G/T snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs10462065
rs10462065 		2 0.925 0.120 5 44068744 upstream gene variant C/A snv 8.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs10511145
rs10511145 		1 1.000 0.080 3 89548529 intergenic variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10512248
rs10512248
PTCH1
4 0.925 0.120 9 95497421 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10808576
rs10808576
CCDC26
1 1.000 0.080 8 129051725 intron variant T/G snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs10808812
rs10808812
ZFHX4-AS1 ; LOC107986952
2 0.925 0.120 8 76593073 intron variant T/C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs10886040
rs10886040
SHTN1
3 0.882 0.120 10 117086783 intron variant C/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs10956453
rs10956453
CCDC26
1 1.000 0.080 8 128937545 intron variant G/C snv 0.72 0.700 1.000 1 2009 2009
dbSNP: rs11066150
rs11066150
NAA25
2 0.925 0.120 12 112080999 intron variant G/A snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs11072494
rs11072494
ARID3B
2 0.925 0.120 15 74596822 3 prime UTR variant C/G;T snv 0.700 1.000 1 2017 2017