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: rs1034395178
rs1034395178
LZTR1
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs10505232
rs10505232 		3 0.925 0.040 8 114878275 intergenic variant A/C snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs11161721
rs11161721
COL24A1
4 1 86022231 intron variant C/A snv 0.27 0.27 0.700 1.000 1 2017 2017
dbSNP: rs11466328
rs11466328
TGFB1
1 19 41345137 intron variant G/A snv 2.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs1559810905
rs1559810905
IFIH1
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
dbSNP: rs201386833
rs201386833 		1 X 116033029 intergenic variant T/-;TT delins 0.700 1.000 1 2017 2017
dbSNP: rs201450565
rs201450565
EEFSEC
1 3 128339767 intron variant -/T delins 1.7E-04 0.700 1.000 1 2017 2017
dbSNP: rs2963463
rs2963463 		1 5 158468041 downstream gene variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs3181382
rs3181382
ADCY4
3 0.925 0.040 14 24320104 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs372271081
rs372271081
NBL1 ; MICOS10-NBL1
2 1.000 0.080 1 19647903 intron variant G/A snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7217780
rs7217780 		1 17 15287707 intron variant C/T snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563
CNTNAP1
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs9927732
rs9927732
BANP
3 0.925 0.040 16 88043118 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs1232880706
rs1232880706
FBN1
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs137854539
rs137854539
GNAS
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs137854889
rs137854889
ZMPSTE24
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1553193507
rs1553193507
NOTCH2
2 1.000 0.080 1 119915869 stop gained G/A snv 0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
17 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
dbSNP: rs1555575860
rs1555575860
COG4
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0