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: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs116920450
rs116920450
CACNA1G
1 1.000 0.040 17 50575769 missense variant G/A;T snv 6.8E-03; 6.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1472351089
rs1472351089
NTNG1
1 1.000 0.040 1 107480764 missense variant G/A snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs199608047
rs199608047
KIF5A
1 1.000 0.040 12 57572647 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs369753226
rs369753226
NTNG1
1 1.000 0.040 1 107480824 missense variant G/A snv 6.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs748723559
rs748723559
KARS1
1 1.000 0.040 16 75630480 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs761288161
rs761288161
NTNG1
1 1.000 0.040 1 107480722 missense variant G/A snv 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs778864713
rs778864713
KIF5A
1 1.000 0.040 12 57572641 missense variant G/A snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs2924835
rs2924835
LRRK1 ; LOC105371026
1 1.000 0.040 15 101066684 missense variant G/A snv 0.31 0.25 0.010 < 0.001 1 2018 2018
dbSNP: rs34090186
rs34090186
MC1R
3 0.882 0.080 16 89919458 missense variant G/A snv 9.6E-04 2.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs34594498
rs34594498
LRRK2
2 0.925 0.040 12 40252984 missense variant C/T snv 4.9E-04 2.4E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs7133914
rs7133914
LRRK2
7 0.790 0.120 12 40309109 missense variant G/A;T snv 8.5E-02; 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs7308720
rs7308720
LRRK2
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs10822974
rs10822974
CTNNA3 ; LRRTM3
1 1.000 0.040 10 67090661 intron variant A/G;T snv 0.020 0.500 2 2017 2018
dbSNP: rs7903491
rs7903491
CTNNA3
1 1.000 0.040 10 67157406 intron variant A/G snv 0.63 0.020 1.000 2 2017 2018
dbSNP: rs138607170
rs138607170
SCN11A
4 0.882 0.080 3 38925454 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs16976358
rs16976358
LINC00907
6 0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800435
rs1800435
ALAD
7 0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs2071747
rs2071747
HMOX1
4 0.851 0.120 22 35381192 missense variant G/C snv 4.3E-02 4.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs2270363
rs2270363
HMOX2 ; NMRAL1
3 0.882 0.080 16 4476291 5 prime UTR variant A/G snv 0.74 0.010 1.000 1 2017 2017
dbSNP: rs3758549
rs3758549
GBF1
3 0.882 0.040 10 102244438 upstream gene variant G/A snv 0.14 0.010 < 0.001 1 2017 2017
dbSNP: rs4919621
rs4919621
PITX3
4 0.851 0.080 10 102238914 intron variant A/T snv 0.66 0.010 < 0.001 1 2017 2017
dbSNP: rs864309650
rs864309650
CHCHD2
4 0.851 0.040 7 56104344 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs10937625
rs10937625
STK32B
1 1.000 0.040 4 5126432 intron variant T/C snv 0.24 0.730 1.000 3 2016 2018
dbSNP: rs12764057
rs12764057
CTNNA3 ; LRRTM3
1 1.000 0.040 10 67085957 intron variant T/G snv 0.35 0.720 0.667 3 2016 2018