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: rs387906711
rs387906711
UBQLN2
6 0.807 0.120 X 56565389 missense variant C/A;T snv 6.6E-06 0.030 1.000 3 2013 2019
dbSNP: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.020 1.000 2 2019 2019
dbSNP: rs1181028283
rs1181028283
C22orf15 ; CHCHD10
2 0.925 0.120 22 23766215 stop gained G/A snv 4.3E-06 0.010 1.000 1 2017 2017
dbSNP: rs191838178
rs191838178
SGSM3
2 0.925 0.160 22 40407449 missense variant C/T snv 2.4E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs866604606
rs866604606
MAPK1
4 0.882 0.120 22 21772907 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs901115236
rs901115236
CHCHD10 ; LOC107985577
3 0.882 0.120 22 23767531 missense variant G/A;T snv 1.5E-05; 1.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1223904774
rs1223904774
APP
8 0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 < 0.001 1 2016 2016
dbSNP: rs6108746
rs6108746 		1 1.000 0.120 20 10922123 intron variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs6111609
rs6111609
RRBP1
1 1.000 0.120 20 17683901 upstream gene variant C/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs747019990
rs747019990
PRNP
4 0.851 0.120 20 4699336 missense variant C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs765930318
rs765930318
TMEM189 ; TMEM189-UBE2V1
1 1.000 0.120 20 50153633 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs867403430
rs867403430
UBE2V1 ; TMEM189-UBE2V1
1 1.000 0.120 20 50113113 missense variant C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs4239633
rs4239633
UNC13A
4 0.851 0.240 19 17631660 intron variant C/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs449647
rs449647
APOE
2 0.925 0.120 19 44905307 upstream gene variant A/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs6857
rs6857
NECTIN2
16 0.790 0.240 19 44888997 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs758290972
rs758290972
TYROBP
1 1.000 0.120 19 35907730 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 3.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs769446
rs769446
APOE
6 0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs7240419
rs7240419
ATP9B
1 1.000 0.120 18 79168989 intron variant G/A snv 0.24 0.700 1.000 1 2018 2018