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: 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: 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
dbSNP: rs918592
rs918592
PDE4D
2 1.000 0.080 5 60401476 intron variant C/T snv 0.36 0.010 < 0.001 1 2006 2006
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2002 2007
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2002 2007
dbSNP: rs1234442507
rs1234442507
TUBB1
3 1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1805015
rs1805015
IL4R
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2007 2007
dbSNP: rs2228315
rs2228315
SELPLG
7 0.807 0.120 12 108624122 missense variant C/T snv 0.11 0.14 0.010 1.000 1 2007 2007
dbSNP: rs230119
rs230119 		2 1.000 0.080 9 119152945 downstream gene variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs2301339
rs2301339
GNB3 ; CDCA3
3 1.000 0.080 12 6845460 3 prime UTR variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs463312
rs463312
TUBB1
4 1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs532019808
rs532019808
NOX4
8 0.827 0.120 11 89451807 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs6797312
rs6797312
SERPINI1
1 3 167769515 intron variant A/T snv 0.46 0.010 1.000 1 2007 2007
dbSNP: rs7493
rs7493
PON2
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2007 2007
dbSNP: rs7506045
rs7506045
IMPA2
2 1.000 0.080 18 11987273 intron variant C/T snv 0.10 0.800 1.000 1 2007 2007
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.030 1.000 3 2001 2008
dbSNP: rs1052700
rs1052700
PLIN1 ; KIF7
3 1.000 0.040 15 89665079 3 prime UTR variant A/T snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs11628722
rs11628722
SERPINA9
1 14 94464768 missense variant A/G snv 0.78 0.71 0.010 1.000 1 2008 2008
dbSNP: rs118192162
rs118192162
RYR1
6 0.851 0.120 19 38455359 missense variant A/C;G snv 0.010 1.000 1 2008 2008