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: rs10746953
rs10746953 		2 0.925 0.040 9 74302924 regulatory region variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs1879553
rs1879553 		2 0.925 0.040 3 118896616 downstream gene variant A/G snv 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs775129424
rs775129424
ACMSD ; CCNT2-AS1
1 1.000 0.040 2 134898383 missense variant G/A snv 8.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs1559085
rs1559085
CAST
2 0.925 0.040 5 96742998 intron variant A/G snv 9.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs27852
rs27852
CAST ; LOC107986363
1 1.000 0.040 5 96710335 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs142444896
rs142444896
CHCHD2
6 0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03 0.020 1.000 2 2015 2016
dbSNP: rs752169833
rs752169833
CHCHD2
3 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs374880482
rs374880482
CHM
2 0.925 0.040 X 85963748 missense variant T/C snv 3.3E-05 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs11186
rs11186
COL5A2
2 0.925 0.040 2 189032668 3 prime UTR variant A/C snv 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1414323823
rs1414323823
CYP1A1
4 0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs112176450
rs112176450
EIF4G1
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs763222239
rs763222239
EIF4G1
5 0.827 0.040 3 184322862 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs6812193
rs6812193
FAM47E ; FAM47E-STBD1 ; LOC105377286
3 0.882 0.080 4 76277833 intron variant C/T snv 0.38 0.010 1.000 1 2015 2015
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 2010 2010
dbSNP: rs1320254777
rs1320254777
GCH1
1 1.000 0.040 14 54902565 missense variant G/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs6692804
rs6692804
GNAI3
1 1.000 0.040 1 109566120 intron variant G/A snv 0.29 0.010 1.000 1 2008 2008
dbSNP: rs7669
rs7669
GTF3A ; MTIF3
2 0.925 0.040 13 27435714 missense variant G/A;C snv 0.15 0.15 0.010 1.000 1 2007 2007
dbSNP: rs3129882
rs3129882
HLA-DRA
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs1366901063
rs1366901063
HSPA8 ; SNORD14C ; SNORD14D ; LOC101929289
2 0.925 0.040 11 123060725 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs13153459
rs13153459
LINC02224
2 0.925 0.040 5 44515833 intron variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9652490
rs9652490
LINGO1
4 0.851 0.080 15 77671545 intron variant A/G snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs947211
rs947211
LOC105371702
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs1362858
rs1362858
LOC105372063
2 0.925 0.040 18 35406636 upstream gene variant C/A snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs6783485
rs6783485
LOC105377110
2 0.925 0.040 3 59442071 intron variant G/A snv 5.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs849898
rs849898
LOC107985355
2 0.925 0.040 1 227966216 intergenic variant A/C;G snv 0.010 1.000 1 2016 2016