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: rs121908513
rs121908513
SPAST
6 0.807 0.280 2 32116145 missense variant T/A snv 0.020 1.000 2 2002 2018
dbSNP: rs104894490
rs104894490
NIPA1
5 0.827 0.240 15 22812252 missense variant G/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs119476046
rs119476046
ATL1
5 0.827 0.240 14 50613343 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs121908514
rs121908514
SPAST
2 0.925 0.080 2 32127006 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs200154785
rs200154785
APP
2 0.925 0.240 21 25997362 missense variant T/A snv 0.010 1.000 1 2002 2002
dbSNP: rs397515564
rs397515564
WASHC5
2 0.925 0.120 8 125055601 missense variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs778023258
rs778023258
SPAST
1 1.000 0.080 2 32154386 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2007 2007