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: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs41274458
rs41274458
KIF1B
4 0.851 0.080 1 10303606 missense variant G/T snv 1.8E-02 1.9E-02 0.010 1.000 1 2003 2003
dbSNP: rs138085133
rs138085133
EXTL1 ; LOC101928216
3 0.882 0.080 1 26022729 missense variant C/G;T snv 8.4E-04; 4.0E-06 0.010 < 0.001 1 2004 2004
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: rs1438565133
rs1438565133
SLC1A3
5 0.827 0.120 5 36674078 missense variant C/G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs28938172
rs28938172
PARK7
7 0.790 0.080 1 7984981 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs587781960
rs587781960
CHEK2
4 0.882 0.080 22 28689164 missense variant A/C;G;T snv 1.3E-05; 7.3E-05 0.010 1.000 1 2005 2005
dbSNP: rs74315351
rs74315351
PARK7
6 0.807 0.080 1 7962863 missense variant G/A snv 0.010 1.000 1 2005 2005
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: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.040 1.000 4 2006 2020
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: 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: rs281864719
rs281864719
ALK
14 0.763 0.240 2 29220831 missense variant A/C;G;T snv 0.100 1.000 15 2008 2019
dbSNP: rs863225281
rs863225281
ALK
12 0.776 0.200 2 29220829 missense variant G/C;T snv 0.100 1.000 15 2008 2019
dbSNP: rs6939340
rs6939340
CASC15 ; NBAT1
4 0.851 0.160 6 22139775 intron variant A/G snv 0.62 0.040 1.000 4 2008 2017
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