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: rs6812193
rs6812193
FAM47E ; FAM47E-STBD1 ; LOC105377286
3 0.882 0.080 4 76277833 intron variant C/T snv 0.38 0.020 1.000 2 2015 2018
dbSNP: rs748055361
rs748055361
GAK
2 0.925 0.080 4 882749 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1450426641
rs1450426641
GBA
4 0.851 0.160 1 155235820 missense variant A/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs11175964
rs11175964
LRRK2
1 1.000 0.080 12 40309185 synonymous variant G/A snv 7.5E-02 5.9E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs11564148
rs11564148
LRRK2
4 0.851 0.080 12 40320099 missense variant T/A snv 0.30 0.27 0.010 1.000 1 2018 2018
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 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 < 0.001 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 < 0.001 1 2018 2018
dbSNP: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs1045722
rs1045722
SNCA
1 1.000 0.080 4 89724520 3 prime UTR variant T/A snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs894278
rs894278
SNCA
4 0.882 0.080 4 89813384 intron variant T/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs356219
rs356219
SNCA ; LOC105377329
9 0.776 0.240 4 89716450 intron variant G/A snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs3756063
rs3756063
SNCA ; SNCA-AS1
2 0.925 0.080 4 89836243 intron variant G/C snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs12185268
rs12185268
SPPL2C ; MAPT-AS1
5 0.851 0.160 17 45846317 missense variant A/G snv 0.15 0.14 0.020 1.000 2 2015 2018
dbSNP: rs34311866
rs34311866
TMEM175
6 0.882 0.080 4 958159 missense variant T/C snv 0.18 0.14 0.010 1.000 1 2020 2020
dbSNP: rs34884217
rs34884217
TMEM175
2 0.925 0.080 4 950422 splice acceptor variant A/C snv 7.0E-02 6.8E-02 0.010 1.000 1 2020 2020