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: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs119103263
rs119103263
MFN2
19 0.827 0.240 1 11992659 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs12568757
rs12568757
CTSS
2 1 150757317 intron variant G/A snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs1279417718
rs1279417718
YARS1
2 1 32806493 missense variant G/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1413239
rs1413239
DPYD ; DPYD-AS1
2 1 97221459 intron variant C/T snv 0.41 0.010 1.000 1 2010 2010
dbSNP: rs1418474769
rs1418474769
GJC2
3 1.000 0.080 1 228157761 start lost G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs281865128
rs281865128
MPZ
5 0.882 0.080 1 161306426 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3811463
rs3811463
LIN28A
14 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs587783070
rs587783070
IARS2
3 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs74315316
rs74315316
GJB3 ; SMIM12 ; LOC105378642
4 0.925 0.080 1 34784797 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs74315317
rs74315317
GJB3 ; SMIM12 ; LOC105378642
3 1.000 0.080 1 34785018 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs74315321
rs74315321
GJB3 ; SMIM12 ; LOC105378642
5 0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs781939614
rs781939614
PEX11B
11 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs781984979
rs781984979
PEX11B
11 0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs794728588
rs794728588
LMNA
2 1.000 0.040 1 156115262 missense variant A/T snv 0.700 0
dbSNP: rs17183814
rs17183814
SCN2A
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs672601368
rs672601368
KIF1A
10 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2017 2017
dbSNP: rs777219451
rs777219451
CHRNG
1 2 232540617 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2012 2012
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs765211108
rs765211108
NGLY1
3 1.000 0.080 3 25729208 frameshift variant ATTG/- delins 1.7E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0