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: rs1562502139
rs1562502139
FAM126A
2 0.925 0.200 7 22983996 frameshift variant TT/- del 0.700 0
dbSNP: rs587777222
rs587777222
CYP7B1
2 0.925 0.120 8 64615194 missense variant T/C snv 2.8E-05 2.8E-05 0.700 1.000 4 2009 2014
dbSNP: rs1569285562
rs1569285562
KDM5C
1 1.000 0.080 X 53224889 start lost T/C snv 0.700 1.000 2 2012 2015
dbSNP: rs769329153
rs769329153
ZFYVE26
2 0.925 0.160 14 67809291 splice acceptor variant T/C snv 5.2E-05 2.1E-05 0.700 1.000 2 2008 2009
dbSNP: rs863224494
rs863224494
L1CAM
1 1.000 0.080 X 153867800 stop gained T/A snv 0.700 1.000 2 2000 2001
dbSNP: rs767871841
rs767871841
SACS
2 0.925 0.160 13 23335083 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs770285398
rs770285398
CYP7B1
1 1.000 0.080 8 64616217 frameshift variant GTTT/- delins 2.8E-05 2.8E-05 0.700 0
dbSNP: rs1259615333
rs1259615333
SACS
2 0.925 0.160 13 23340970 frameshift variant GTCT/- delins 7.0E-06 0.700 1.000 2 2010 2011
dbSNP: rs768823392
rs768823392
SPG7
10 0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 0.700 0
dbSNP: rs886039410
rs886039410
L1CAM
1 1.000 0.080 X 153865707 stop gained G/T snv 0.700 0
dbSNP: rs1060499939
rs1060499939
SPAST
4 0.882 0.120 2 32137172 missense variant G/C;T snv 0.700 0
dbSNP: rs116171274
rs116171274
CYP7B1
3 0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 0.700 1.000 5 2009 2014
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: rs121918262
rs121918262
REEP1
3 0.882 0.240 2 86282216 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1553314978
rs1553314978
SPAST
2 0.925 0.120 2 32114826 splice donor variant G/A;T snv 0.700 0
dbSNP: rs398123108
rs398123108
ABCD1
3 0.925 0.200 X 153743211 intron variant G/A;T snv 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: 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: rs104894490
rs104894490
NIPA1
5 0.827 0.240 15 22812252 missense variant G/A;C 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: rs771551765
rs771551765
TMEM67
3 0.925 0.200 8 93815388 missense variant G/A snv 8.0E-06 4.2E-05 0.700 1.000 2 1999 2017
dbSNP: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs121908345
rs121908345
MLC1
6 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018