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: 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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2015 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: rs56285021
rs56285021
SNCAIP
2 0.925 0.040 5 122422868 missense variant T/C snv 4.0E-06 0.010 1.000 1 2002 2002
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: 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: rs28363170
rs28363170
SLC6A3
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs3836790
rs3836790
SLC6A3
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2016 2016
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: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2014 2014
dbSNP: rs1801334
rs1801334
PRKN
4 0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02 0.010 1.000 1 2005 2005
dbSNP: rs141366047
rs141366047
PRKN
3 0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs1801474
rs1801474
PRKN
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 1999 1999
dbSNP: rs11868035
rs11868035
SREBF1 ; RAI1
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2018 2018
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: 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: 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: rs823144
rs823144
RAB29 ; LOC105371702
2 0.925 0.040 1 205775418 5 prime UTR variant C/A;G snv 0.010 1.000 1 2015 2015
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: rs753359396
rs753359396
TH
1 1.000 0.040 11 2168093 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs755509970
rs755509970
NUDT1
1 1.000 0.040 7 2244708 missense variant T/C snv 2.1E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs4866
rs4866
NUDT1
5 0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs849898
rs849898
LOC107985355
2 0.925 0.040 1 227966216 intergenic variant A/C;G snv 0.010 1.000 1 2016 2016
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