Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142375870
rs142375870
MAG
0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2019 2019
dbSNP: rs144553163
rs144553163
MAG
0.925 0.080 19 35299590 missense variant C/T snv 3.7E-03 3.9E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2019 2019
dbSNP: rs121434444
rs121434444
KIF5A
0.882 0.160 12 57569648 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2018 2018
dbSNP: rs121908345
rs121908345
MLC1
0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2018 2018
dbSNP: rs1364050643
rs1364050643
REEP1
0.851 0.240 2 86232711 missense variant G/A snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2018 2018
dbSNP: rs771551765
rs771551765
TMEM67
0.925 0.200 8 93815388 missense variant G/A snv 8.0E-06 4.2E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 2 1999 2017
dbSNP: rs1085307110
rs1085307110
EPHB1 ; CEP63 ; KY
0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 1 2017 2017
dbSNP: rs387906710
rs387906710
UBQLN2
0.882 0.120 X 56565362 missense variant C/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2017 2017
dbSNP: rs558285072
rs558285072
ZFYVE26
0.925 0.160 14 67777729 stop gained G/A;C snv 2.4E-05; 4.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 1 2016 2016
dbSNP: rs754944359
rs754944359
AP4S1
1.000 0.080 14 31066239 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 1 2016 2016
dbSNP: rs772400670
rs772400670
CYP2U1 ; LOC107986298
0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2016 2016
dbSNP: rs797045050
rs797045050
KIF1A
0.807 0.120 2 240797715 missense variant C/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 1 2016 2016
dbSNP: rs1555177629
rs1555177629
KIF5A
0.925 0.120 12 57567514 missense variant C/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 4 2009 2015
dbSNP: rs1569285562
rs1569285562
KDM5C
1.000 0.080 X 53224889 start lost T/C snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 2 2012 2015
dbSNP: rs116171274
rs116171274
CYP7B1
0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 5 2009 2014
dbSNP: rs587776888
rs587776888
GJC2
0.925 0.160 1 228149860 upstream gene variant A/G snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 5 2010 2014
dbSNP: rs587777222
rs587777222
CYP7B1
0.925 0.120 8 64615194 missense variant T/C snv 2.8E-05 2.8E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 4 2009 2014
dbSNP: rs746979262
rs746979262
CYP7B1
1.000 0.080 8 64624475 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 3 2009 2014
dbSNP: rs1160357920
rs1160357920
SACS
0.925 0.160 13 23339132 missense variant C/T snv 7.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 1 2013 2013
dbSNP: rs145766983
rs145766983
SACS
0.925 0.160 13 23336603 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 1 2013 2013
dbSNP: rs1566055368
rs1566055368
SACS
1.000 0.080 13 23330968 stop gained A/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 1 2013 2013
dbSNP: rs61755320
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2013 2013
dbSNP: rs121434441
rs121434441
KIF5A
0.882 0.240 12 57569015 missense variant A/G snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2012 2012
dbSNP: rs1331505548
rs1331505548
KIF5C
0.925 0.200 2 148949891 missense variant A/G snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2012 2012
dbSNP: rs780247476
rs780247476
SACS
0.925 0.160 13 23332970 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 3 2008 2011