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: rs1085307110
rs1085307110
EPHB1 ; CEP63 ; KY
3 0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins 0.700 1.000 1 2017 2017
dbSNP: rs897755799
rs897755799
GPT ; MFSD3 ; LOC101928953
1 1.000 0.080 8 144506618 missense variant C/T snv 1.9E-05 7.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs66468541
rs66468541
HSPD1
4 0.925 0.080 2 197497275 missense variant C/T snv 0.020 1.000 2 2008 2019
dbSNP: rs587777132
rs587777132
ALS2
3 0.882 0.120 2 201728592 stop gained G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1331686243
rs1331686243
NIPA1
1 1.000 0.080 15 22812234 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs104894490
rs104894490
NIPA1
5 0.827 0.240 15 22812252 missense variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs786200949
rs786200949
KIF1A
4 0.851 0.120 2 240788208 missense variant G/A snv 0.700 0
dbSNP: rs548204329
rs548204329
KIF1A
1 1.000 0.080 2 240797722 missense variant G/A;T snv 4.1E-06 0.700 1.000 1 2017 2017
dbSNP: rs1377512692
rs1377512692
APP
1 1.000 0.080 21 25905062 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs372702043
rs372702043
APP
2 0.925 0.120 21 25976006 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs890815306
rs890815306
APP
1 1.000 0.080 21 25997377 missense variant G/A snv 0.010 1.000 1 2018 2018
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: rs200133991
rs200133991
C19orf12
3 0.925 0.080 19 29708290 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs1553316816
rs1553316816
SPAST
2 0.925 0.080 2 32126982 missense variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs587777757
rs587777757
SPAST
2 0.925 0.080 2 32128450 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs770388772
rs770388772
SPAST
1 1.000 0.080 2 32136629 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs878854991
rs878854991
SPAST
5 0.882 0.080 2 32141906 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs398123015
rs398123015
CREB3 ; GBA2
2 0.925 0.080 9 35737335 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs398123012
rs398123012
GBA2
2 0.925 0.080 9 35738811 missense variant G/A snv 1.6E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs763958615
rs763958615
ERLIN2
1 1.000 0.080 8 37753994 missense variant A/G;T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs750663981
rs750663981
SPG11
2 0.925 0.080 15 44598811 frameshift variant -/G delins 2.0E-05 6.3E-05 0.700 0
dbSNP: rs312262720
rs312262720
SPG11
5 0.882 0.120 15 44657230 frameshift variant AT/- del 4.9E-05 0.700 1.000 1 2017 2017
dbSNP: rs864622269
rs864622269
ATL1
6 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1313275799
rs1313275799
AP4E1
2 1.000 0.080 15 51002561 stop gained C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1555177629
rs1555177629
KIF5A
2 0.925 0.120 12 57567514 missense variant C/T snv 0.700 1.000 1 2017 2017