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: rs1268656
rs1268656
ESR2 ; SYNE2
2 0.925 0.040 14 64180928 intron variant T/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs17588172
rs17588172 		2 0.925 0.040 7 116513961 intergenic variant T/G snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1547014
rs1547014
CHEK2
1 1.000 0.040 22 28704723 intron variant T/C snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs3753380
rs3753380
PTGFR
1 1.000 0.040 1 78490747 intron variant T/C snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs52809447
rs52809447
GGA3
1 1.000 0.040 17 75242427 missense variant T/C snv 7.3E-03 7.9E-03 0.010 1.000 1 2014 2014
dbSNP: rs747782
rs747782 		4 0.925 0.040 11 47919373 intergenic variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs7859156
rs7859156
LMX1B
4 0.851 0.040 9 126637749 intron variant T/C snv 0.74 0.010 1.000 1 2009 2009
dbSNP: rs7291444
rs7291444
PKDREJ
1 1.000 0.040 22 46260349 missense variant T/A;G snv 7.6E-03; 0.14 0.010 1.000 1 2014 2014
dbSNP: rs7830
rs7830
NOS3 ; ATG9B
11 0.763 0.320 7 151012483 3 prime UTR variant G/T snv 0.38 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2008 2008
dbSNP: rs16947
rs16947
CYP2D6 ; NDUFA6-DT
5 0.882 0.040 22 42127941 missense variant G/A;T snv 0.020 0.500 2 2009 2010
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7081455
rs7081455 		4 0.851 0.040 10 20349956 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
15 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 0.010 1.000 1 2014 2014
dbSNP: rs4241366
rs4241366
SLCO2A1
2 0.925 0.040 3 134031326 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs571448378
rs571448378
FDXR
5 0.882 0.120 17 74872110 stop gained G/A;C snv 4.1E-06; 4.1E-06 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs74315329
rs74315329
MYOC ; MYOCOS
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.070 0.857 7 1999 2017
dbSNP: rs10120688
rs10120688
CDKN2B-AS1
7 0.807 0.080 9 22056500 intron variant G/A snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2002 2002
dbSNP: rs1761667
rs1761667
CD36
12 0.752 0.320 7 80615623 intron variant G/A snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs2472493
rs2472493
LOC105376196
5 0.851 0.040 9 104933567 downstream gene variant G/A snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs3793342
rs3793342
NOS3
4 0.851 0.040 7 150998107 intron variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs566289099
rs566289099
MYOC ; MYOCOS
6 0.807 0.080 1 171636310 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2003 2003
dbSNP: rs6445055
rs6445055
FNDC3B
4 0.925 0.040 3 172274597 intron variant G/A snv 0.24 0.010 1.000 1 2014 2014