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: rs10013040
rs10013040
NEIL3
1 1.000 0.080 4 177309998 synonymous variant C/A snv 0.20 0.20 0.010 < 0.001 1 2015 2015
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 1 2015 2015
dbSNP: rs1007888
rs1007888
MIF-AS1
4 0.882 0.120 22 23898914 non coding transcript exon variant C/T snv 0.46 0.010 1.000 1 2009 2009
dbSNP: rs1008563
rs1008563 		1 1.000 0.080 2 218162165 downstream gene variant G/A snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs10116277
rs10116277
CDKN2B-AS1
8 0.827 0.160 9 22081398 intron variant G/T snv 0.62 0.700 1.000 1 2007 2007
dbSNP: rs10118757
rs10118757
MTAP
7 0.827 0.120 9 21853340 intron variant A/G snv 0.26 0.010 < 0.001 1 2013 2013
dbSNP: rs1012841819
rs1012841819
ADRA2B
4 0.882 0.160 2 96115728 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs10176176
rs10176176 		1 1.000 0.080 2 85534925 upstream gene variant A/T snv 0.54 0.700 1.000 1 2015 2015
dbSNP: rs1024323
rs1024323
GRK4
4 0.882 0.160 4 3004316 missense variant C/A;G;T snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.020 1.000 2 2013 2016
dbSNP: rs10263017
rs10263017
EIF2AK1
1 1.000 0.080 7 6026173 intron variant G/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10281500
rs10281500
VOPP1
1 1.000 0.080 7 55475197 intron variant C/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs10304
rs10304
SMTN ; SELENOM
2 0.925 0.120 22 31104550 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs1041740
rs1041740
SOD1
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.720 1.000 2 2005 2007
dbSNP: rs1042034
rs1042034
APOB
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.010 1.000 1 2004 2004
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.030 1.000 3 2002 2004
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.030 1.000 3 2005 2010
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.050 1.000 5 2002 2018
dbSNP: rs10432782
rs10432782
SOD1
7 0.807 0.160 21 31664078 intron variant T/G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1045274
rs1045274
PIGQ
1 1.000 0.080 16 580902 synonymous variant C/G;T snv 0.16; 2.0E-05 0.700 1.000 1 2011 2011
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.710 1.000 2 2013 2015
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2009 2014
dbSNP: rs104895285
rs104895285
TNFRSF1A
1 1.000 0.080 12 6330873 missense variant A/T snv 0.010 1.000 1 2008 2008