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: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs28933698
rs28933698
NOTCH3
4 0.882 0.160 19 15189004 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs63750579
rs63750579
APP
13 0.742 0.280 21 25891856 missense variant C/G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs63750671
rs63750671
APP
8 0.790 0.240 21 25891858 missense variant G/C snv 0.010 1.000 1 2002 2002
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.030 1.000 3 2003 2019
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.010 1.000 1 2004 2004
dbSNP: rs1555729486
rs1555729486
NOTCH3
2 1.000 19 15192118 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2004 2004
dbSNP: rs752907384
rs752907384
VEGFA
6 0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs773539041
rs773539041
NOTCH3
2 1.000 19 15192289 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.060 0.833 6 2005 2016
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.040 1.000 4 2005 2018
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2005 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2005 2005
dbSNP: rs11739136
rs11739136
KCNMB1 ; KCNIP1
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs1263282981
rs1263282981
NR4A3 ; STX17-AS1
2 1.000 0.080 9 99828749 missense variant C/T snv 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2006 2018
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2006 2006
dbSNP: rs1800472
rs1800472
TGFB1
11 0.752 0.360 19 41341955 missense variant G/A snv 2.6E-02 2.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs2066718
rs2066718
ABCA1
7 0.882 0.120 9 104826974 missense variant C/G;T snv 4.3E-04; 5.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2006 2006
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2006 2006