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: rs2435211
rs2435211
MAPT
1 17 45985878 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1264519280
rs1264519280
KHDRBS1
2 1.000 0.040 1 32014083 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1360444859
rs1360444859
IGFALS ; SPSB3
2 1.000 0.080 16 1791721 missense variant T/C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs1428103360
rs1428103360
SMN2
2 1.000 0.040 5 70070732 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs1481950
rs1481950
ATP6V1H
2 1.000 0.080 8 53777725 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs149215094
rs149215094
VAPB
2 1.000 0.080 20 58444203 missense variant G/A snv 5.6E-05 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs267606900
rs267606900
MTPAP
2 1.000 10 30313926 missense variant T/C snv 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs371557337
rs371557337
DCTN4
2 1.000 0.040 5 150733475 start lost T/C;G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3857059
rs3857059
SNCA
2 1.000 0.040 4 89754087 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs587778556
rs587778556
NFE2L2
2 2 177231705 missense variant G/A snv 3.2E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs63751177
rs63751177
GRN
2 1.000 0.120 17 44351438 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs752933837
rs752933837
PRKCG
2 1.000 0.080 19 53906776 missense variant C/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs755135182
rs755135182
NFE2L2
2 2 177231657 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs80356740
rs80356740
TARDBP
2 1.000 1 11022556 missense variant A/G snv 1.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs387907043
rs387907043
DNAJC5
3 0.925 0.120 20 63930873 missense variant T/A;G snv 4.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs104893922
rs104893922
SMN1 ; SMN2
3 0.925 0.080 5 70946157 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs121912432
rs121912432
SOD1
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1265011107
rs1265011107
WDTC1
3 1.000 0.080 1 27283372 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1272951905
rs1272951905
MTHFSD
3 0.925 0.160 16 86532210 missense variant C/T snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs143061887
rs143061887
PSEN2
3 0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs2275294
rs2275294
ZNF512B
3 0.925 0.080 20 63962894 intron variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs397515634
rs397515634
UCHL1 ; UCHL1-AS1
3 0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs407135
rs407135
SLC11A2
3 0.925 0.120 12 51017570 intron variant G/T snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs537742207
rs537742207
MDH2
3 1.000 0.080 7 76054974 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs771845093
rs771845093
MFN2
3 0.925 0.160 1 12005903 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019