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: rs146603794
rs146603794
GABRR1
1 1.000 0.040 6 89198164 missense variant A/G snv 5.2E-04 2.1E-04 0.010 1.000 1 2011 2011
dbSNP: rs282129
rs282129
GABRR2
1 1.000 0.040 6 89257779 missense variant G/A snv 0.25 0.31 0.010 1.000 1 2011 2011
dbSNP: rs832032
rs832032
GABRR3
2 1.000 0.040 3 98007903 stop gained A/G;T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2013 2013
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: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.020 1.000 2 2015 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: rs1051308
rs1051308
HMOX2 ; CDIP1
3 0.882 0.080 16 4510300 3 prime UTR variant G/A snv 0.54 0.020 0.500 2 2015 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: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.020 1.000 2 2008 2010
dbSNP: rs781183862
rs781183862
HS1BP3
1 1.000 0.040 2 20623988 synonymous variant G/A;C snv 8.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs72470545
rs72470545
HTRA2 ; LOXL3
6 0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03 0.020 1.000 2 2014 2017
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: 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: rs199608047
rs199608047
KIF5A
1 1.000 0.040 12 57572647 missense variant G/A snv 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: 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: rs9652490
rs9652490
LINGO1
4 0.851 0.080 15 77671545 intron variant A/G snv 0.28 0.900 0.714 14 2009 2016
dbSNP: rs11856808
rs11856808
LINGO1
5 0.827 0.120 15 77680428 intron variant C/T snv 0.42 0.030 0.667 3 2010 2012
dbSNP: rs13313467
rs13313467
LINGO1
1 1.000 0.040 15 77673826 intron variant C/A snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs8028808
rs8028808
LINGO1
1 1.000 0.040 15 77675074 intron variant G/A snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs2271397
rs2271397
LINGO1 ; LOC105370906
1 1.000 0.040 15 77615433 synonymous variant T/A;C snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs10812774
rs10812774
LINGO2
2 0.925 0.040 9 28294233 intron variant T/C snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs7033345
rs7033345
LINGO2
3 0.882 0.080 9 28717575 intergenic variant T/C;G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs1521179
rs1521179
LINGO4
1 1.000 0.040 1 151800911 3 prime UTR variant G/A snv 0.10 5.3E-02 0.010 < 0.001 1 2012 2012