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 0.040 1.000 4 2007 2019
dbSNP: rs112422930
rs112422930
MUTYH
4 0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs3219484
rs3219484
MUTYH
7 0.807 0.160 1 45334484 missense variant C/A;T snv 4.8E-02 4.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2011 2011
dbSNP: rs564919438
rs564919438
MUTYH
2 1.000 0.040 1 45332421 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs75548401
rs75548401
GBA
6 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs11887120
rs11887120
DNMT3A
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 < 0.001 1 2016 2016
dbSNP: rs1427575965
rs1427575965
TIA1 ; C2orf42
3 0.925 0.120 2 70212796 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs17746510
rs17746510
RAPGEF4
5 0.882 0.080 2 173019562 intron variant T/C;G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs544706237
rs544706237
REG1A
5 0.851 0.120 2 79121649 missense variant A/G;T snv 8.0E-06; 5.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2018 2018
dbSNP: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
3 0.925 0.040 2 166054735 missense variant A/G snv 0.700 0
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 1.000 4 2008 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2008 2019
dbSNP: rs1126680
rs1126680
BCHE
5 0.851 0.160 3 165837337 synonymous variant C/T snv 5.6E-02 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs17518584
rs17518584
CADM2
8 0.827 0.160 3 85555773 intron variant C/T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs55781031
rs55781031
BCHE
3 0.925 0.080 3 165786432 intron variant A/G snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs62256378
rs62256378
SUCLG2
3 0.925 0.080 3 67406609 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs9877502
rs9877502 		3 0.925 0.080 3 190951729 intergenic variant G/A snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs17641411
rs17641411
GABRA4
1 4 46941670 intron variant C/T snv 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs542171324
rs542171324
SNCA
6 0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs10073892
rs10073892
SLCO6A1
1 5 102391066 non coding transcript exon variant T/C snv 0.24 0.21 0.700 1.000 1 2014 2014