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: rs119467003
rs119467003
TDP1
4 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.040 1.000 4 2005 2010
dbSNP: rs1060501920
rs1060501920
MFN2
1 1.000 0.040 1 11992662 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121913605
rs121913605
MPZ
2 0.925 0.080 1 161307306 missense variant G/C snv 1.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs121918312
rs121918312
BAG3
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs121918551
rs121918551
AAAS
3 0.882 0.200 12 53308095 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs397515323
rs397515323
PDK3
7 0.851 0.080 X 24503479 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs397515432
rs397515432
GDAP1
3 0.882 0.080 8 74364270 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs730880031
rs730880031
CHCHD10 ; LOC107985577
7 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs749165928
rs749165928
PMP22
1 1.000 0.040 17 15230925 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs765672269
rs765672269
IGFALS ; SPSB3
5 0.851 0.120 16 1792338 stop gained C/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs771096255
rs771096255
MAD2L1BP
1 1.000 0.040 6 43640312 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs776404901
rs776404901
MFN2
1 1.000 0.040 1 11996236 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs797045050
rs797045050
KIF1A
6 0.807 0.120 2 240797715 missense variant C/T snv 0.010 1.000 1 2017 2017