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: rs752114312
rs752114312
SRRM2
1 1.000 0.080 16 2760410 missense variant A/C;G snv 8.0E-06; 8.4E-05 0.020 1.000 2 2016 2016
dbSNP: rs752612830
rs752612830
ATG5
1 1.000 0.080 6 106316116 synonymous variant T/C snv 8.0E-06 4.9E-05 0.020 1.000 2 2003 2005
dbSNP: rs755836362
rs755836362
ARHGEF7
1 1.000 0.080 13 111267576 frameshift variant G/- delins 0.020 1.000 2 2008 2009
dbSNP: rs765162614
rs765162614
PAX7
1 1.000 0.080 1 18634498 missense variant G/C snv 4.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs765508638
rs765508638
VGF
1 1.000 0.080 7 101164751 missense variant C/A;T snv 9.8E-05; 4.1E-06 0.020 1.000 2 2018 2018
dbSNP: rs766196255
rs766196255
TARDBP
1 1.000 0.080 1 11022532 missense variant A/G snv 2.6E-05 1.4E-05 0.020 1.000 2 2012 2019
dbSNP: rs770678026
rs770678026
ALB
1 1.000 0.080 4 73413430 missense variant C/G snv 1.2E-05 7.0E-06 0.020 1.000 2 2013 2013
dbSNP: rs774359
rs774359
C9orf72
1 1.000 0.080 9 27561051 3 prime UTR variant T/C snv 0.23 0.700 1.000 2 2010 2013
dbSNP: rs777551553
rs777551553
APOE
1 1.000 0.080 19 44906639 stop gained G/A snv 4.0E-06 0.020 1.000 2 2009 2015
dbSNP: rs781860006
rs781860006
MAGEE1
1 1.000 0.080 X 76428205 missense variant G/C snv 0.020 1.000 2 2011 2020
dbSNP: rs894982289
rs894982289
SIGMAR1
1 1.000 0.080 9 34637237 missense variant C/G snv 0.020 1.000 2 2014 2017
dbSNP: rs903603
rs903603
MOB3B ; LOC112268043
1 1.000 0.080 9 27529318 non coding transcript exon variant G/A snv 0.39 0.710 1.000 2 2010 2013
dbSNP: rs1008459
rs1008459
KIAA0040
1 1.000 0.080 1 175182047 intron variant T/C snv 0.25 0.700 1.000 1 2007 2007
dbSNP: rs10122902
rs10122902
C9orf72
1 1.000 0.080 9 27556782 synonymous variant G/A snv 0.24 0.21 0.800 1.000 1 2010 2010
dbSNP: rs10143310
rs10143310
ATXN3
1 1.000 0.080 14 92074037 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10438933
rs10438933
B4GALT6
1 1.000 0.080 18 31693166 intergenic variant A/G snv 0.14 0.800 1.000 1 2009 2009
dbSNP: rs10511816
rs10511816
MOB3B
1 1.000 0.080 9 27468463 intron variant C/A snv 0.30 0.700 1.000 1 2013 2013
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: rs10757665
rs10757665
C9orf72
1 1.000 0.080 9 27557921 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs10812605
rs10812605
MOB3B
1 1.000 0.080 9 27510362 intron variant C/T snv 0.58 0.700 1.000 1 2013 2013
dbSNP: rs10812611
rs10812611
C9orf72 ; LOC107987057
1 1.000 0.080 9 27542263 non coding transcript exon variant C/T snv 0.42 0.700 1.000 1 2013 2013
dbSNP: rs10967952
rs10967952
MOB3B
1 1.000 0.080 9 27474216 intron variant T/C snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs10967958
rs10967958
MOB3B
1 1.000 0.080 9 27481907 intron variant C/T snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs10967959
rs10967959
MOB3B
1 1.000 0.080 9 27482969 intron variant C/G;T snv 0.700 1.000 1 2013 2013