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: rs397514662
rs397514662
COX15 ; CUTC
0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 1997 1997
dbSNP: rs12252
rs12252
IFITM3
0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2016 2016
dbSNP: rs1280914556
rs1280914556
KHDRBS1
1 32014269 missense variant A/G snv 2.1E-05
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2019 2019
dbSNP: rs1801252
rs1801252
ADRB1
0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2017 2017
dbSNP: rs267607102
rs267607102
TARDBP
0.851 0.120 1 11022196 missense variant A/G snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2018 2018
dbSNP: rs80356717
rs80356717
TARDBP
0.851 0.120 1 11018836 missense variant A/G snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2018 2018
dbSNP: rs62643364
rs62643364
PRNP
0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2019 2019
dbSNP: rs1051169
rs1051169
S100B
0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2020 2020
dbSNP: rs1064039
rs1064039
CST3
0.827 0.200 20 23637790 missense variant C/G;T snv 0.20
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2010 2010
dbSNP: rs104893877
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 1.000 2 2019 2019
dbSNP: rs121434444
rs121434444
KIF5A
0.882 0.160 12 57569648 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2018 2018
dbSNP: rs1457713736
rs1457713736
CTSB
8 11850867 stop gained C/T snv 7.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2010 2010
dbSNP: rs587777162
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2015 2015
dbSNP: rs74315322
rs74315322
HAX1
1.000 0.040 1 154275165 stop gained C/T snv 3.6E-05
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2008 2008
dbSNP: rs749191312
rs749191312
RBBP9
1.000 0.080 20 18497075 synonymous variant C/T snv 4.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2013 2013
dbSNP: rs80358261
rs80358261
NPC2
0.925 0.160 14 74486404 missense variant C/T snv 1.7E-05 1.4E-05
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2005 2005
dbSNP: rs121908345
rs121908345
MLC1
0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2018 2018
dbSNP: rs1258159645
rs1258159645
NQO1
0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2019 2019
dbSNP: rs1364050643
rs1364050643
REEP1
0.851 0.240 2 86232711 missense variant G/A snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2018 2018
dbSNP: rs13963
rs13963
CLEC3B ; EXOSC7
3 45035631 missense variant G/A snv 0.49 0.43
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 < 0.001 1 2019 2019
dbSNP: rs1471980111
rs1471980111
DNAH8
6 38737948 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2019 2019
dbSNP: rs1800014
rs1800014
PRNP
0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2000 2000
dbSNP: rs1800566
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2019 2019
dbSNP: rs1805032
rs1805032
CACNB4
1.000 0.040 2 151839238 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 < 0.001 1 2014 2014