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: rs4656461
rs4656461 		7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.810 1.000 2 2011 2012
dbSNP: rs523096
rs523096
CDKN2B-AS1
7 0.827 0.080 9 22019130 intron variant A/G snv 0.30 0.810 1.000 1 2012 2012
dbSNP: rs74315329
rs74315329
MYOC ; MYOCOS
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.800 1.000 11 1998 2019
dbSNP: rs3213787
rs3213787
SRBD1
2 0.925 0.040 2 45419685 intron variant A/G snv 4.3E-02 0.800 1.000 1 2010 2010
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.800 1.000 1 2011 2011
dbSNP: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.750 1.000 6 2007 2019
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.730 1.000 4 2007 2017
dbSNP: rs10120688
rs10120688
CDKN2B-AS1
7 0.807 0.080 9 22056500 intron variant G/A snv 0.50 0.710 1.000 2 2012 2012
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.710 1.000 2 2011 2017
dbSNP: rs879255525
rs879255525
MYOC ; MYOCOS
1 1.000 0.040 1 171636617 stop gained T/A snv 4.0E-06 0.710 1.000 1 2018 2018
dbSNP: rs1013278
rs1013278 		1 1.000 0.040 7 117963766 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1015213
rs1015213 		6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10152898
rs10152898 		1 1.000 0.040 15 73962780 intergenic variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs10281637
rs10281637 		2 1.000 0.040 7 116511284 downstream gene variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs10505100
rs10505100
ANGPT1
1 1.000 0.040 8 107266388 intron variant C/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs10918274
rs10918274
TMCO1
2 1.000 0.040 1 165745179 intron variant T/C snv 0.89 0.700 1.000 1 2018 2018
dbSNP: rs10965219
rs10965219
CDKN2B-AS1
4 0.882 0.080 9 22053688 intron variant A/G snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs11024102
rs11024102
PLEKHA7
7 0.851 0.040 11 16987058 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs11217878
rs11217878
ARHGEF12
2 1.000 0.040 11 120469674 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs113432289
rs113432289
RAPGEF5
1 1.000 0.040 7 22253498 intron variant A/C snv 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs113985657
rs113985657
EXOC2
2 1.000 0.040 6 597203 intron variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs11710139
rs11710139
LOC107986141 ; LOC107986142
1 1.000 0.040 3 150341555 non coding transcript exon variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs12150284
rs12150284
GAS7
3 1.000 0.040 17 10127773 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12377624
rs12377624
LOC105376277
2 1.000 0.040 9 126610831 intron variant G/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs12440667
rs12440667
LOXL1
2 1.000 0.040 15 73939098 intron variant C/A;T snv 0.700 1.000 1 2007 2007