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: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1047731829
rs1047731829
LDLR
1 1.000 0.040 19 11120186 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 < 0.001 1 1993 1993
dbSNP: rs116928232
rs116928232
LIPA
9 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.010 1.000 1 2013 2013
dbSNP: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2017 2017
dbSNP: rs12422149
rs12422149
SLCO2B1
7 0.827 0.120 11 75172532 missense variant G/A;T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs12449157
rs12449157
GFOD2
4 1.000 0.040 16 67674994 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1279368649
rs1279368649
LDLR
1 1.000 0.040 19 11120146 missense variant C/T snv 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs1308646934
rs1308646934
LDLR
1 1.000 0.040 19 11129527 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs138947766
rs138947766
LDLR
6 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs141502002
rs141502002
PCSK9
3 0.882 0.080 1 55058549 missense variant C/T snv 6.0E-04 2.8E-03 0.010 1.000 1 2005 2005
dbSNP: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs16827671
rs16827671
CTSS
1 1.000 0.040 1 150766283 upstream gene variant T/C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs17222772
rs17222772
ALOX5AP
3 0.925 0.120 13 30737959 intron variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs17231896
rs17231896
CETP
3 0.925 0.120 16 56982180 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs17321515
rs17321515 		16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs1746661
rs1746661
FNDC5
3 0.925 0.080 1 32869438 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2007 2007