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: rs398123108
rs398123108
ABCD1
3 0.925 0.200 X 153743211 intron variant G/A;T snv 0.700 0
dbSNP: rs72554620
rs72554620
CYP7B1
3 0.882 0.200 8 64604753 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 3 1998 2010
dbSNP: rs746979262
rs746979262
CYP7B1
1 1.000 0.080 8 64624475 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 3 2009 2014
dbSNP: rs780247476
rs780247476
SACS
2 0.925 0.160 13 23332970 stop gained G/A snv 1.2E-05 1.4E-05 0.700 1.000 3 2008 2011
dbSNP: rs1553262438
rs1553262438
GJC2
1 1.000 0.080 1 228157899 stop gained C/G snv 0.700 1.000 2 2008 2010
dbSNP: rs863224494
rs863224494
L1CAM
1 1.000 0.080 X 153867800 stop gained T/A snv 0.700 1.000 2 2000 2001
dbSNP: rs145766983
rs145766983
SACS
2 0.925 0.160 13 23336603 stop gained G/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1566055368
rs1566055368
SACS
1 1.000 0.080 13 23330968 stop gained A/T snv 0.700 1.000 1 2013 2013
dbSNP: rs370828455
rs370828455
ZFYVE26
2 0.925 0.160 14 67782971 stop gained C/T snv 4.0E-06 1.4E-05 0.700 1.000 1 1981 1981
dbSNP: rs558285072
rs558285072
ZFYVE26
2 0.925 0.160 14 67777729 stop gained G/A;C snv 2.4E-05; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs754944359
rs754944359
AP4S1
1 1.000 0.080 14 31066239 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs772400670
rs772400670
CYP2U1 ; LOC107986298
3 0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1156566314
rs1156566314
SACS
1 1.000 0.080 13 23332937 stop gained C/A;T snv 0.700 0
dbSNP: rs121908613
rs121908613
CYP7B1
3 0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 0.700 0
dbSNP: rs1557092248
rs1557092248
L1CAM
1 1.000 0.080 X 153869520 stop gained G/A snv 0.700 0
dbSNP: rs1569544723
rs1569544723
L1CAM
1 1.000 0.080 X 153867479 stop gained G/A snv 0.700 0
dbSNP: rs200440467
rs200440467
AP4S1
2 0.925 0.080 14 31072968 stop gained C/A;T snv 4.0E-06; 1.2E-04 0.700 0
dbSNP: rs200737038
rs200737038
CYP7B1
1 1.000 0.080 8 64616207 stop gained G/A snv 1.4E-04 7.0E-05 0.700 0
dbSNP: rs200832994
rs200832994
ZFYVE26
2 0.925 0.160 14 67807692 stop gained G/A snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs767350733
rs767350733
ALS2
7 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs768366199
rs768366199
ZFYVE26
1 1.000 0.080 14 67777597 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs774809466
rs774809466
ZFYVE26
2 0.925 0.160 14 67783020 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs774906736
rs774906736
SACS
2 0.925 0.080 13 23332169 stop gained G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs794727501
rs794727501
CYP7B1
1 1.000 0.080 8 64616016 stop gained C/G;T snv 0.700 0
dbSNP: rs886039410
rs886039410
L1CAM
1 1.000 0.080 X 153865707 stop gained G/T snv 0.700 0