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: rs4756846
rs4756846
SOX6
2 0.925 0.120 11 16381965 intron variant T/C snv 8.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs12151790
rs12151790 		1 1.000 0.080 2 234302083 regulatory region variant G/A snv 0.13 0.800 1.000 1 2010 2010
dbSNP: rs12808199
rs12808199 		1 1.000 0.080 11 39306409 intergenic variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs13182402
rs13182402
ALDH7A1
4 0.925 0.160 5 126582456 intron variant A/G snv 0.15 0.800 1.000 1 2010 2010
dbSNP: rs16965654
rs16965654
RPS16P8
1 1.000 0.080 17 27280666 non coding transcript exon variant G/A snv 1.6E-02 0.700 1.000 1 2010 2010
dbSNP: rs17184557
rs17184557
DOK6
1 1.000 0.080 18 69475621 intron variant T/A snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs2062375
rs2062375
COLEC10
2 1.000 0.080 8 118965553 intergenic variant G/C snv 0.65 0.800 1.000 1 2010 2010
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 2010 2010
dbSNP: rs494453
rs494453
RAP1A ; KRT18P57
1 1.000 0.080 1 111649500 non coding transcript exon variant T/C snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs545382
rs545382
LRP5
1 1.000 0.080 11 68403545 synonymous variant T/C snv 0.91 0.83 0.010 1.000 1 2010 2010
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.010 1.000 1 2010 2010
dbSNP: rs7227401
rs7227401
OSBPL1A
1 1.000 0.080 18 24358694 intron variant T/G snv 0.69 0.800 1.000 1 2010 2010
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 2010 2010
dbSNP: rs1038304
rs1038304
CCDC170 ; LOC107986528
4 0.882 0.160 6 151612040 intron variant A/G snv 0.58 0.010 1.000 1 2011 2011
dbSNP: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs2273061
rs2273061
JAG1
3 1.000 0.080 20 10658895 intron variant G/A snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs2306033
rs2306033
LRP4
1 1.000 0.080 11 46875895 missense variant G/A snv 0.21 0.13 0.010 1.000 1 2011 2011
dbSNP: rs3130340
rs3130340
TSBP1-AS1
5 0.851 0.200 6 32276850 intron variant T/C snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs4870044
rs4870044
CCDC170
3 1.000 0.080 6 151580274 intron variant C/T snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs56116165
rs56116165
COA3 ; WNK4
1 1.000 0.080 17 42796301 missense variant C/G;T snv 4.1E-06; 5.7E-03 0.010 1.000 1 2011 2011
dbSNP: rs6929137
rs6929137
CCDC170 ; LOC107986528
6 0.851 0.160 6 151615542 missense variant G/A snv 0.31 0.36 0.010 1.000 1 2011 2011
dbSNP: rs1255801434
rs1255801434
SLCO6A1
1 1.000 0.080 5 102438650 missense variant T/C snv 4.3E-06 0.010 1.000 1 2012 2012
dbSNP: rs17289263
rs17289263
CER1
1 1.000 0.080 9 14720363 synonymous variant T/C snv 9.2E-02 9.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs17651
rs17651
ISG15
1 1.000 0.080 1 1014228 missense variant G/A;C snv 0.010 1.000 1 2012 2012