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: 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: rs28933979
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2001 2001
dbSNP: rs28939711
rs28939711
COX15 ; CUTC
0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2016 2016
dbSNP: rs374651285
rs374651285
ALB
4 73406645 missense variant G/A snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2019 2019
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: rs398122370
rs398122370
PRNP
0.925 0.160 20 4699851 missense variant G/C snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2000 2000
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: 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: 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: rs756915170
rs756915170
NUP62 ; IL4I1
19 49909654 missense variant T/C snv 4.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2019 2019
dbSNP: rs771884087
rs771884087
SLPI ; LOC105372630
1.000 0.080 20 45253726 synonymous variant T/C snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2013 2013
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: 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