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: rs2507800
rs2507800
ANGPT1
2 1.000 0.040 8 107250441 3 prime UTR variant T/A snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 1999 1999
dbSNP: rs7020782
rs7020782
PAPPA
1 1.000 0.040 9 116344602 missense variant C/A snv 0.68 0.59 0.010 1.000 1 2015 2015
dbSNP: rs1341667
rs1341667
STOX1
4 0.925 0.040 10 68882104 missense variant T/C snv 0.62 0.57 0.020 1.000 2 2010 2011
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.020 1.000 2 2008 2012
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.020 1.000 2 2008 2012
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2011
dbSNP: rs770016471
rs770016471
ACE
1 1.000 0.040 17 63497260 missense variant C/G snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs2059806
rs2059806
INSR
7 0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26 0.010 1.000 1 2017 2017
dbSNP: rs779370907
rs779370907
ISYNA1
1 1.000 0.040 19 18436405 synonymous variant C/T snv 6.0E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs780972489
rs780972489
ISYNA1
1 1.000 0.040 19 18436831 synonymous variant C/T snv 8.9E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2017 2017