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: rs369947678
rs369947678
UBQLN2
2 0.925 0.080 X 56565446 missense variant C/A;G;T snv 2.0E-05; 2.7E-05; 3.3E-04 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1363384405
rs1363384405
OPTN
1 1.000 0.080 10 13132130 missense variant A/G snv 4.0E-06 2.8E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs1384003425
rs1384003425
UBQLN2
1 1.000 0.080 X 56565047 missense variant A/G snv 5.5E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs1424595938
rs1424595938
UBQLN2
1 1.000 0.080 X 56565049 missense variant G/A snv 5.5E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs147541241
rs147541241
DPYSL3
1 1.000 0.080 5 147415766 missense variant T/C snv 4.1E-03 4.1E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs17560
rs17560
ANG ; RNASE4
1 1.000 0.080 14 20693814 missense variant A/G snv 1.4E-03 4.0E-03 0.010 < 0.001 1 2012 2012
dbSNP: rs17571
rs17571
CTSD
6 0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2251644
rs2251644
DYNC1H1
1 1.000 0.080 14 102001510 intron variant A/G snv 0.17 0.21 0.010 < 0.001 1 2006 2006
dbSNP: rs397518452
rs397518452
HNRNPA1
2 0.925 0.080 12 54283845 missense variant A/T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs551521196
rs551521196
CHCHD10 ; LOC107985577
3 0.882 0.080 22 23767535 missense variant G/A snv 2.8E-03 2.3E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 < 0.001 1 2017 2017
dbSNP: rs746682028
rs746682028
BDNF ; BDNF-AS
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs774017767
rs774017767
ANG ; RNASE4
1 1.000 0.080 14 20693759 synonymous variant C/T snv 8.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs941793
rs941793
DYNC1H1
1 1.000 0.080 14 102041124 non coding transcript exon variant A/G snv 0.36 0.010 < 0.001 1 2006 2006
dbSNP: rs981951447
rs981951447
RASA1
2 0.925 0.120 5 87268726 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs11701
rs11701
ANG ; RNASE4
2 0.925 0.080 14 20693894 synonymous variant T/A;C;G snv 4.0E-06; 0.14 0.040 0.500 4 2007 2016
dbSNP: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.040 0.500 4 2008 2017
dbSNP: rs11541242
rs11541242
ANG ; RNASE4
1 1.000 0.080 14 20693740 missense variant T/C snv 0.020 0.500 2 2012 2014
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.020 0.500 2 2010 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 0.500 2 2016 2018
dbSNP: rs742710
rs742710
CHGB
2 0.925 0.080 20 5923382 missense variant C/T snv 0.11 0.12 0.050 0.600 5 2009 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.636 11 2007 2016