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: rs74315352
rs74315352
PARK7
6 0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs774005786
rs774005786
PARK7
8 0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs104893856
rs104893856
PHOX2B
6 0.827 0.080 4 41746162 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1415224147
rs1415224147
MAPKAP1
3 0.882 0.080 9 125585715 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs201668878
rs201668878
UBE4A
4 0.882 0.080 11 118373576 missense variant T/C snv 1.7E-04 1.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs63750852
rs63750852
PSEN1
8 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs938050921
rs938050921
DCDC2 ; KAAG1
5 0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.030 1.000 3 1999 2007
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2005 2007
dbSNP: rs104893936
rs104893936
SNCB
4 0.851 0.120 5 176626472 missense variant C/G;T snv 5.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs104893937
rs104893937
SNCB
4 0.851 0.120 5 176621218 missense variant G/T snv 1.7E-04 2.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs4987023
rs4987023
SOD2
6 0.807 0.120 6 159692661 missense variant C/T snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs761051758
rs761051758
HSPB1
7 0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs777949955
rs777949955
HSPB3
5 0.827 0.160 5 54456064 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121964884
rs121964884
AVP
4 0.851 0.200 20 3083005 stop gained G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1442511697
rs1442511697
ADRA2B
3 0.882 0.080 2 96115494 missense variant T/C snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs397507509
rs397507509
PTPN11
9 0.807 0.240 12 112450359 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs63750355
rs63750355
CHMP2B
5 0.827 0.160 3 87253472 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs773249771
rs773249771
ADRA1A
3 0.882 0.080 8 26864314 missense variant T/C snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs17016074
rs17016074
SNCA
4 0.851 0.080 4 89726127 3 prime UTR variant G/A snv 4.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs6336
rs6336
NTRK1
5 0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs121912452
rs121912452
SOD1
6 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1301478248
rs1301478248
CASP9
3 0.882 0.080 1 15495395 missense variant C/T snv 0.010 1.000 1 2010 2010