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: rs1223904774
rs1223904774
APP
8 0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
dbSNP: rs1805054
rs1805054
HTR6
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2004 2004
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs121912433
rs121912433
SOD1
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912456
rs121912456
SOD1 ; LOC102724449
6 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1049564
rs1049564
PNP
6 0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 0.010 1.000 1 2007 2007
dbSNP: rs1315695444
rs1315695444
SELP
2 1.000 0.040 1 169611580 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs1206642175
rs1206642175
ESR1
3 0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121434610
rs121434610
SMS
3 0.882 0.120 X 21967312 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2344484
rs2344484 		3 0.925 0.040 5 135540941 upstream gene variant A/G snv 0.47 0.010 1.000 1 2008 2008
dbSNP: rs63750082
rs63750082
PSEN1
13 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs80356733
rs80356733
TARDBP
7 0.790 0.200 1 11022451 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs80356734
rs80356734
TARDBP
4 0.851 0.160 1 11022464 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1018381
rs1018381
DTNBP1
6 0.882 0.040 6 15656839 intron variant G/A snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1255998
rs1255998
ESR2
6 0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1256030
rs1256030
ESR2
6 0.827 0.240 14 64280452 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1256065
rs1256065
ESR2
3 0.925 0.120 14 64232214 3 prime UTR variant G/T snv 0.66 0.010 1.000 1 2009 2009
dbSNP: rs17601241
rs17601241
CYP19A1 ; MIR4713HG
2 1.000 0.040 15 51215677 intron variant G/A snv 0.11 8.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs179363901
rs179363901
MECP2
4 0.882 0.120 X 154097661 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs4646
rs4646
CYP19A1 ; MIR4713HG
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.010 1.000 1 2009 2009