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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2010 2010
dbSNP: rs10746953
rs10746953 		2 0.925 0.040 9 74302924 regulatory region variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs10788972
rs10788972
TCEANC2
2 0.925 0.040 1 54106570 intron variant C/A snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs11186
rs11186
COL5A2
2 0.925 0.040 2 189032668 3 prime UTR variant A/C snv 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs112176450
rs112176450
EIF4G1
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs11868035
rs11868035
SREBF1 ; RAI1
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2018 2018
dbSNP: rs11931074
rs11931074
SNCA ; LOC105377329
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12046178
rs12046178
TCEANC2
1 1.000 0.040 1 54106502 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121917767
rs121917767
UCHL1
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs13153459
rs13153459
LINC02224
2 0.925 0.040 5 44515833 intron variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1320254777
rs1320254777
GCH1
1 1.000 0.040 14 54902565 missense variant G/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1362858
rs1362858
LOC105372063
2 0.925 0.040 18 35406636 upstream gene variant C/A snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1366901063
rs1366901063
HSPA8 ; SNORD14C ; SNORD14D ; LOC101929289
2 0.925 0.040 11 123060725 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs141366047
rs141366047
PRKN
3 0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs1414323823
rs1414323823
CYP1A1
4 0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1559085
rs1559085
CAST
2 0.925 0.040 5 96742998 intron variant A/G snv 9.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs1801334
rs1801334
PRKN
4 0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02 0.010 1.000 1 2005 2005
dbSNP: rs1801474
rs1801474
PRKN
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 1999 1999
dbSNP: rs1879553
rs1879553 		2 0.925 0.040 3 118896616 downstream gene variant A/G snv 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs2066842
rs2066842
NOD2
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.010 1.000 1 2013 2013
dbSNP: rs2736990
rs2736990
SNCA
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs27852
rs27852
CAST ; LOC107986363
1 1.000 0.040 5 96710335 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs28363170
rs28363170
SLC6A3
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs3129882
rs3129882
HLA-DRA
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.010 1.000 1 2011 2011