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: rs1558119445
rs1558119445
GJC2
1 1.000 0.080 1 228157841 frameshift variant -/AC delins 0.700 1.000 3 2004 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: 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: 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: rs142375870
rs142375870
MAG
3 0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs144553163
rs144553163
MAG
3 0.925 0.080 19 35299590 missense variant C/T snv 3.7E-03 3.9E-03 0.010 1.000 1 2019 2019
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
dbSNP: rs1569544908
rs1569544908
L1CAM
1 1.000 0.080 X 153872147 splice region variant C/T snv 0.700 1.000 1 1994 1994
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: rs1006060877
rs1006060877
SACS
1 1.000 0.080 13 23354743 frameshift variant C/- del 1.4E-05 0.700 0
dbSNP: rs1057518760
rs1057518760
KIF1A
4 1.000 0.080 2 240788182 missense variant C/T snv 0.700 0
dbSNP: rs1057518880
rs1057518880
SPAST
1 1.000 0.080 2 32126966 frameshift variant G/- del 0.700 0
dbSNP: rs1060502224
rs1060502224
CYP7B1
1 1.000 0.080 8 64596876 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs1060503431
rs1060503431
SACS
1 1.000 0.080 13 23334312 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs1156566314
rs1156566314
SACS
1 1.000 0.080 13 23332937 stop gained C/A;T snv 0.700 0
dbSNP: rs1448182827
rs1448182827
GBA2
1 1.000 0.080 9 35738148 frameshift variant G/- del 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1555979596
rs1555979596
SLC16A2 ; LOC105373252
2 1.000 0.080 X 74421994 frameshift variant CT/- delins 0.700 0
dbSNP: rs1557091278
rs1557091278
L1CAM
1 1.000 0.080 X 153867355 splice donor variant C/T snv 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