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: rs223331
rs223331
CISD2
5 0.851 0.160 4 102872408 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs223330
rs223330
CISD2
4 0.851 0.160 4 102872502 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.060 0.500 6 2003 2014
dbSNP: rs72783884
rs72783884
PAM
1 1.000 0.080 5 102912212 intron variant A/T snv 6.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs12413409
rs12413409
CNNM2
9 0.790 0.200 10 102959339 intron variant G/A snv 9.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs78408340
rs78408340
PAM
2 1.000 0.080 5 103003035 missense variant C/G;T snv 3.7E-03; 8.1E-06 0.710 1.000 2 2014 2018
dbSNP: rs35658696
rs35658696
PAM
3 1.000 0.080 5 103003107 missense variant A/G snv 3.1E-02 3.2E-02 0.710 1.000 2 2014 2018
dbSNP: rs7674212
rs7674212
SLC9B2
1 1.000 0.080 4 103067742 intron variant G/A;T snv 0.800 1.000 3 2011 2018
dbSNP: rs115505614
rs115505614
GIN1
1 1.000 0.080 5 103087264 3 prime UTR variant C/T snv 3.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs75432112
rs75432112 		1 1.000 0.080 5 103250706 intron variant G/A snv 3.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs1384401
rs1384401
TACR3
1 1.000 0.080 4 103643921 intron variant G/A snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs2299383
rs2299383
RELN
2 1.000 0.080 7 103778399 intron variant C/T snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs11591710
rs11591710 		3 0.882 0.160 10 103927874 intergenic variant A/C snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs649891
rs649891
PTPRD
1 1.000 0.080 9 10430602 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs13268287
rs13268287
LRP12
1 1.000 0.080 8 104548593 intron variant A/G snv 1.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs10515353
rs10515353 		1 1.000 0.080 5 104585969 intron variant T/C snv 0.14 0.010 1.000 1 2007 2007
dbSNP: rs3803304
rs3803304
AKT1
3 0.882 0.160 14 104772809 intron variant C/G snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs2494738
rs2494738
AKT1
1 1.000 0.080 14 104780349 intron variant G/A snv 1.0E-01 0.010 1.000 1 2017 2017
dbSNP: rs2494746
rs2494746
AKT1
1 1.000 0.080 14 104791382 intron variant C/G snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs146292819
rs146292819
ABCA1
9 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 0.010 1.000 1 2012 2012
dbSNP: rs2498786
rs2498786
AKT1
2 0.925 0.160 14 104796031 upstream gene variant C/G snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs2230808
rs2230808
ABCA1
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2008 2008
dbSNP: rs12582312
rs12582312
SLC41A2
1 1.000 0.080 12 104821402 intron variant C/T snv 2.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs10861279
rs10861279
SLC41A2
1 1.000 0.080 12 104821412 intron variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2066714
rs2066714
ABCA1
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2008 2008