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: rs16996381
rs16996381 		1 1.000 0.120 22 36115231 intergenic variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs17809399
rs17809399
LARGE1
1 1.000 0.120 22 33861145 intron variant G/A snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs2075241
rs2075241
LRP6 ; BCL2L14
4 0.882 0.200 12 12138545 intron variant G/A;C snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs2346061
rs2346061
CNDP1
1 1.000 0.120 18 74533297 upstream gene variant C/A snv 0.71 0.010 1.000 1 2011 2011
dbSNP: rs3736228
rs3736228
LRP5
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.010 1.000 1 2011 2011
dbSNP: rs3773885
rs3773885
MME
2 0.925 0.200 3 155141792 intron variant G/A snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs3796268
rs3796268
MME
2 0.925 0.200 3 155117435 intron variant T/C snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2011 2011
dbSNP: rs4820043
rs4820043
LIMK2
1 1.000 0.120 22 31251108 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs491347
rs491347
LRP5
2 0.925 0.200 11 68402220 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs5749286
rs5749286
DRG1 ; SFI1
1 1.000 0.120 22 31504373 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs5749682
rs5749682
LARGE1
1 1.000 0.120 22 33852326 intron variant C/A snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs652438
rs652438
MMP12
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs6930576
rs6930576
SASH1
1 1.000 0.120 6 148383818 intron variant G/A snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs735853
rs735853
MYH9
1 1.000 0.120 22 36283169 intron variant C/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs7412
rs7412
APOE
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs7577
rs7577
CNDP2
1 1.000 0.120 18 74521112 3 prime UTR variant T/A;C;G snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.010 1.000 1 2011 2011
dbSNP: rs9533481
rs9533481
ENOX1
1 1.000 0.120 13 43415049 intron variant T/C snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.060 0.667 6 2007 2012
dbSNP: rs2237897
rs2237897
KCNQ1
6 0.882 0.200 11 2837316 intron variant C/T snv 8.1E-02 0.020 1.000 2 2010 2012
dbSNP: rs10811661
rs10811661 		22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs1400094618
rs1400094618
MOK
3 0.882 0.240 14 102229508 missense variant A/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1926447
rs1926447
CPB2 ; CPB2-AS1
11 0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77 0.010 1.000 1 2012 2012