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: 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 2002 2002
dbSNP: rs2742976
rs2742976
E2F2
3 0.882 0.240 1 23531510 upstream gene variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs771845093
rs771845093
MFN2
3 0.925 0.160 1 12005903 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2010 2010
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.030 1.000 3 2012 2017
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 1.000 2 2018 2019
dbSNP: rs36117895
rs36117895
ATG7
1 1.000 0.120 3 11358545 missense variant T/C snv 3.2E-02 3.9E-02 0.020 1.000 2 2010 2013
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.020 1.000 2 2016 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs10934657
rs10934657
KALRN
1 1.000 0.120 3 124093989 intron variant T/C snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 < 0.001 1 2007 2007
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2007 2013
dbSNP: rs5030732
rs5030732
UCHL1 ; UCHL1-AS1
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.030 1.000 3 2002 2009
dbSNP: rs10015979
rs10015979
HTT
1 1.000 0.120 4 3107715 intron variant A/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs10937921
rs10937921 		2 1.000 0.120 4 3274764 downstream gene variant C/T snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs110501
rs110501
HTT
1 1.000 0.120 4 3223751 intron variant T/C snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs11248108
rs11248108
RNF4
1 1.000 0.120 4 2479763 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1138690
rs1138690 		1 1.000 0.120 4 3289674 upstream gene variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11731237
rs11731237
HTT
1 1.000 0.120 4 3150086 intron variant C/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs1210554604
rs1210554604
HTT
1 1.000 0.120 4 3131662 missense variant G/A snv 0.010 1.000 1 2009 2009
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 2002 2002