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: 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: rs587776888
rs587776888
GJC2
2 0.925 0.160 1 228149860 upstream gene variant A/G snv 0.700 1.000 5 2010 2014
dbSNP: rs1555177629
rs1555177629
KIF5A
2 0.925 0.120 12 57567514 missense variant C/T snv 0.700 1.000 4 2009 2015
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: rs137852520
rs137852520
L1CAM
4 0.851 0.200 X 153868866 missense variant C/T snv 0.700 1.000 3 1994 2002
dbSNP: rs1558119445
rs1558119445
GJC2
1 1.000 0.080 1 228157841 frameshift variant -/AC delins 0.700 1.000 3 2004 2010
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: 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: rs1553262438
rs1553262438
GJC2
1 1.000 0.080 1 228157899 stop gained C/G snv 0.700 1.000 2 2008 2010
dbSNP: rs1566058677
rs1566058677
SACS
1 1.000 0.080 13 23332943 frameshift variant G/- del 0.700 1.000 2 2010 2011
dbSNP: rs1569285562
rs1569285562
KDM5C
1 1.000 0.080 X 53224889 start lost T/C snv 0.700 1.000 2 2012 2015
dbSNP: rs281865117
rs281865117
SACS
2 0.925 0.160 13 23335032 frameshift variant A/- del 6.4E-05 1.4E-05 0.700 1.000 2 2000 2001
dbSNP: rs767164213
rs767164213
ZFYVE26
2 0.925 0.160 14 67786112 splice donor variant A/C snv 1.6E-05 0.700 1.000 2 2008 2009
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: 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: rs773182375
rs773182375
SACS
1 1.000 0.080 13 23336670 frameshift variant AA/- del 1.4E-05 0.700 1.000 2 2010 2011
dbSNP: rs863224494
rs863224494
L1CAM
1 1.000 0.080 X 153867800 stop gained T/A snv 0.700 1.000 2 2000 2001
dbSNP: rs1085307110
rs1085307110
EPHB1 ; CEP63 ; KY
3 0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins 0.700 1.000 1 2017 2017
dbSNP: rs1160357920
rs1160357920
SACS
2 0.925 0.160 13 23339132 missense variant C/T snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs137852524
rs137852524
L1CAM
3 0.882 0.200 X 153869818 missense variant C/T snv 0.700 1.000 1 2002 2002
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: rs1557090220
rs1557090220
L1CAM
1 1.000 0.080 X 153864820 splice donor variant C/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1566055368
rs1566055368
SACS
1 1.000 0.080 13 23330968 stop gained A/T snv 0.700 1.000 1 2013 2013