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: rs58064122
rs58064122
0.882 0.160 17 44913334 missense variant G/A;C snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.850 1.000 31 2001 2019
dbSNP: rs121909717
rs121909717
0.925 0.120 17 44908075 missense variant G/A;C;T snv 1.2E-04
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.830 1.000 27 2001 2014
dbSNP: rs59565950
rs59565950
1.000 0.120 17 44913333 missense variant C/A;G;T snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.820 0.923 13 2001 2013
dbSNP: rs59793293
rs59793293
1.000 0.120 17 44915252 missense variant G/A;C;T snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.820 1.000 12 1976 2019
dbSNP: rs59285727
rs59285727
1.000 0.120 17 44915251 missense variant C/A;G;T snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.810 1.000 27 2001 2014
dbSNP: rs61497286
rs61497286
1.000 0.120 17 44913318 missense variant G/A snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.810 1.000 22 2001 2014
dbSNP: rs267607505
rs267607505
1.000 0.120 17 44913279 missense variant T/C snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.810 1.000 21 2001 2014
dbSNP: rs797044571
rs797044571
1.000 0.120 17 44915255 missense variant C/T snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.810 1.000 2 2011 2013
dbSNP: rs267607510
rs267607510
1.000 0.120 17 44915278 missense variant C/T snv 4.0E-06
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 24 2001 2014
dbSNP: rs267607511
rs267607511
1.000 0.120 17 44911287 missense variant A/G snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 24 2001 2014
dbSNP: rs121909719
rs121909719
1.000 0.120 17 44911751 missense variant C/A snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 23 2001 2014
dbSNP: rs267607500
rs267607500
1.000 0.120 17 44913430 missense variant C/G;T snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 23 2001 2014
dbSNP: rs267607504
rs267607504
1.000 0.120 17 44915266 missense variant A/G snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 23 2001 2014
dbSNP: rs267607512
rs267607512
1.000 0.120 17 44911237 stop gained G/A;C snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 23 2001 2014
dbSNP: rs267607514
rs267607514
1.000 0.120 17 44911369 missense variant C/T snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 22 2001 2014
dbSNP: rs267607516
rs267607516
1.000 0.120 17 44915185 missense variant A/G snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 22 1991 2014
dbSNP: rs28932769
rs28932769
1.000 0.120 17 44911308 missense variant A/G snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 22 2001 2014
dbSNP: rs57661783
rs57661783
1.000 0.120 17 44913421 stop gained C/A;T snv 4.0E-06
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 22 2001 2014
dbSNP: rs57815192
rs57815192
1.000 0.120 17 44911251 missense variant T/A;C snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 22 2001 2014
dbSNP: rs60825166
rs60825166
1.000 0.120 17 44911288 missense variant G/C snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 22 2001 2014
dbSNP: rs121909720
rs121909720
1.000 0.120 17 44915253 missense variant G/T snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 21 2001 2014
dbSNP: rs267607506
rs267607506
1.000 0.120 17 44915240 missense variant A/G;T snv 8.0E-06
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 21 2001 2014
dbSNP: rs267607523
rs267607523
1.000 0.120 17 44915273 missense variant C/T snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 21 2001 2014
dbSNP: rs267607525
rs267607525
1.000 0.120 17 44913342 missense variant T/G snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 21 2001 2014
dbSNP: rs57120761
rs57120761
1.000 0.120 17 44915261 missense variant G/A;C snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.800 1.000 21 2001 2014