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: rs587777449
rs587777449
IFIH1
6 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs758379595
rs758379595
CLCN2
5 0.882 0.040 3 184359130 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs867593888
rs867593888
MYH9
11 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.020 < 0.001 2 2006 2008
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs10033464
rs10033464 		8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.010 < 0.001 1 2012 2012
dbSNP: rs104893914
rs104893914
NR3C1
2 1.000 0.080 5 143282714 missense variant C/T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1051730
rs1051730
CHRNA3
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 < 0.001 1 2015 2015
dbSNP: rs1058261
rs1058261
DES
2 2 219420587 synonymous variant C/T snv 0.33 0.37 0.010 < 0.001 1 2018 2018
dbSNP: rs10792367
rs10792367
SLC22A8
1 11 62991327 non coding transcript exon variant C/G snv 0.44 0.010 < 0.001 1 2011 2011
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1175543
rs1175543
PPARG
5 0.851 0.120 3 12424934 intron variant A/G snv 0.28 0.010 < 0.001 1 2018 2018
dbSNP: rs1182055544
rs1182055544
GNAS
1 20 58853903 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs12631819
rs12631819
PPARG
1 3 12301362 intron variant G/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1289480182
rs1289480182
HSD3B1
1 1 119513916 synonymous variant C/T snv 7.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1308703978
rs1308703978
SELENBP1
1 1 151365194 missense variant C/A;T snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1317816474
rs1317816474
GNAS
1 20 58909544 missense variant G/A snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1558902
rs1558902
FTO
21 0.827 0.120 16 53769662 intron variant T/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 < 0.001 1 2015 2015
dbSNP: rs17111503
rs17111503
PCSK9
7 0.925 0.160 1 55037775 upstream gene variant A/G snv 0.22 0.010 < 0.001 1 2017 2017
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 < 0.001 1 2019 2019
dbSNP: rs1800588
rs1800588
LIPC ; ALDH1A2
16 0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 0.010 < 0.001 1 2018 2018
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.010 < 0.001 1 2009 2009
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 < 0.001 1 2013 2013
dbSNP: rs2027937
rs2027937
CCHCR1
1 6 31148725 missense variant C/T snv 8.3E-02 6.6E-02 0.010 < 0.001 1 2010 2010