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: rs104893941
rs104893941
SQSTM1 ; MRNIP
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs1053983726
rs1053983726
PTAFR
1 1.000 0.080 1 28150741 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1054281443
rs1054281443
NUP98
1 1.000 0.080 11 3735207 missense variant G/A snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2010 2010
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1157289563
rs1157289563
ELP1
2 0.925 0.120 9 108881749 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs115796194
rs115796194
IL1R1
1 1.000 0.080 2 102171877 synonymous variant A/G snv 1.1E-03 5.4E-03 0.010 1.000 1 2002 2002
dbSNP: rs1162626131
rs1162626131
MST1 ; RNF123
2 0.925 0.080 3 49687855 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1164344738
rs1164344738
UBQLN2
1 1.000 0.080 X 56565469 synonymous variant C/T snv 9.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs1167052126
rs1167052126
RNF40 ; ZNF629
2 0.925 0.080 16 30783980 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1167658973
rs1167658973
VIP
1 1.000 0.080 6 152752270 synonymous variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1181875747
rs1181875747
POMC
1 1.000 0.080 2 25161629 stop gained G/A;C;T snv 6.7E-06; 1.3E-05 0.010 1.000 1 2016 2016
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: rs1194556417
rs1194556417
ASIC2
1 1.000 0.080 17 33292023 synonymous variant C/T snv 7.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs11981433
rs11981433
PON2
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1217364684
rs1217364684
HTT ; HTT-AS
1 1.000 0.080 4 3074912 synonymous variant G/A snv 5.9E-05 0.010 1.000 1 2016 2016
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: rs121908395
rs121908395
TARDBP
2 0.925 0.080 1 11022278 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs121908515
rs121908515
SPAST
3 0.882 0.280 2 32063962 stop gained C/A;T snv 4.1E-06; 4.6E-03 0.010 1.000 1 2008 2008
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: rs121909335
rs121909335
VCP
9 0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121909344
rs121909344
DCTN1
2 0.925 0.080 2 74366896 missense variant G/A;C snv 1.9E-04 0.010 1.000 1 2004 2004
dbSNP: rs121909345
rs121909345
DCTN1
4 0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs121909539
rs121909539
ANG ; RNASE4
5 0.827 0.120 14 20693753 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121909669
rs121909669
FUS
2 0.925 0.080 16 31191410 missense variant G/A snv 0.010 1.000 1 2013 2013