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: rs1064793976
rs1064793976
SPAST
1 1.000 0.080 2 32154373 splice acceptor variant G/A;C snv 0.700 1.000 3 2002 2006
dbSNP: rs1218081251
rs1218081251
SPAST
1 1.000 0.080 2 32141902 splice acceptor variant A/C;G snv 0.700 1.000 3 2001 2010
dbSNP: rs1553314978
rs1553314978
SPAST
2 0.925 0.120 2 32114826 splice donor variant G/A;T snv 0.700 1.000 3 2010 2014
dbSNP: rs1553316799
rs1553316799
SPAST
1 1.000 0.080 2 32126952 missense variant T/C snv 0.700 1.000 3 2006 2017
dbSNP: rs1553319526
rs1553319526
SPAST
1 1.000 0.080 2 32144936 splice acceptor variant G/A;T snv 0.700 1.000 3 2002 2012
dbSNP: rs121908517
rs121908517
SPAST
3 0.925 0.240 2 32063965 missense variant C/A snv 3.9E-04 6.2E-04 0.700 1.000 2 2004 2006
dbSNP: rs1553316838
rs1553316838
SPAST
1 1.000 0.080 2 32127013 missense variant G/T snv 0.700 1.000 2 2000 2011
dbSNP: rs1553319075
rs1553319075
SPAST
1 1.000 0.080 2 32141904 missense variant G/C snv 0.700 1.000 2 2006 2010
dbSNP: rs1553399493
rs1553399493
SPAST
1 1.000 0.080 2 32087520 stop gained G/A snv 0.700 1.000 2 2012 2015
dbSNP: rs1558341948
rs1558341948
SPAST
1 1.000 0.080 2 32144986 missense variant G/A;C snv 0.700 1.000 2 2000 2009
dbSNP: rs570685843
rs570685843
SPAST
1 1.000 0.080 2 32136969 splice region variant AAGT/- delins 0.700 1.000 2 2000 2015
dbSNP: rs587777754
rs587777754
SPAST
1 1.000 0.080 2 32147259 splice donor variant G/A;C;T snv 0.700 1.000 2 2000 2005
dbSNP: rs1315245986
rs1315245986
SPAST
1 1.000 0.080 2 32141903 splice acceptor variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs1410418105
rs1410418105
SPAST
1 1.000 0.080 2 32064155 frameshift variant GGCGGCGAGGCCG/- delins 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1485703744
rs1485703744
SPAST
1 1.000 0.080 2 32087497 stop gained C/T snv 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1553318282
rs1553318282
SPAST
1 1.000 0.080 2 32136973 splice region variant G/A;C snv 0.700 1.000 1 2000 2000
dbSNP: rs1553319296
rs1553319296
SPAST
1 1.000 0.080 2 32143372 stop gained C/T snv 0.700 1.000 1 2009 2009
dbSNP: rs1553319298
rs1553319298
SPAST
1 1.000 0.080 2 32143373 frameshift variant GAAG/- delins 0.700 1.000 1 2003 2003
dbSNP: rs1553321194
rs1553321194
SPAST
1 1.000 0.080 2 32154372 splice acceptor variant A/G;T snv 0.700 1.000 1 2005 2005
dbSNP: rs1553399472
rs1553399472
SPAST
1 1.000 0.080 2 32087498 frameshift variant AGAA/- del 0.700 1.000 1 2014 2014
dbSNP: rs1553400002
rs1553400002
SPAST
1 1.000 0.080 2 32089580 frameshift variant G/- delins 0.700 1.000 1 2002 2002
dbSNP: rs1558336927
rs1558336927
SPAST
1 1.000 0.080 2 32136952 splice donor variant -/AATAGAATTTGATGGTG delins 0.700 1.000 1 2010 2010
dbSNP: rs587777752
rs587777752
SPAST
1 1.000 0.080 2 32147216 splice acceptor variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs875989878
rs875989878
SPAST
1 1.000 0.080 2 32128480 splice donor variant G/A snv 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1057519181
rs1057519181
SPAST
1 1.000 0.080 2 32116180 missense variant G/A snv 0.700 0