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: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
8 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
dbSNP: rs397514513
rs397514513
CYP2U1 ; LOC107986298
4 0.882 0.080 4 107945426 missense variant A/T snv 0.700 0
dbSNP: rs759033144
rs759033144
CYP2U1 ; LOC107986298
1 1.000 0.080 4 107947399 frameshift variant AG/- delins 1.2E-05 2.1E-05 0.700 0
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: rs730882207
rs730882207
EPB41L4A
2 0.925 0.160 5 112204453 missense variant G/A snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs863223926
rs863223926
CDK2AP1 ; C12orf65
2 0.925 0.080 12 123253769 frameshift variant -/ATCC delins 0.700 0
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: rs1331505548
rs1331505548
KIF5C
2 0.925 0.200 2 148949891 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs398123108
rs398123108
ABCD1
3 0.925 0.200 X 153743211 intron variant G/A;T snv 0.700 0
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: rs886039410
rs886039410
L1CAM
1 1.000 0.080 X 153865707 stop gained G/T snv 0.700 0
dbSNP: rs1557091278
rs1557091278
L1CAM
1 1.000 0.080 X 153867355 splice donor variant C/T snv 0.700 0
dbSNP: rs1569544723
rs1569544723
L1CAM
1 1.000 0.080 X 153867479 stop gained G/A snv 0.700 0
dbSNP: rs863224494
rs863224494
L1CAM
1 1.000 0.080 X 153867800 stop gained T/A snv 0.700 1.000 2 2000 2001
dbSNP: rs137852520
rs137852520
L1CAM
4 0.851 0.200 X 153868866 missense variant C/T snv 0.700 1.000 3 1994 2002
dbSNP: rs1557092248
rs1557092248
L1CAM
1 1.000 0.080 X 153869520 stop gained G/A snv 0.700 0
dbSNP: rs137852524
rs137852524
L1CAM
3 0.882 0.200 X 153869818 missense variant C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs886039405
rs886039405
L1CAM
1 1.000 0.080 X 153870246 splice region variant C/T snv 0.700 0
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: rs66864704
rs66864704
ABCC6
10 0.882 0.280 16 16188907 missense variant A/G snv 1.2E-04 3.6E-04 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: rs104894490
rs104894490
NIPA1
5 0.827 0.240 15 22812252 missense variant G/A;C snv 0.700 0
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: rs1558119445
rs1558119445
GJC2
1 1.000 0.080 1 228157841 frameshift variant -/AC delins 0.700 1.000 3 2004 2010
dbSNP: rs1553262438
rs1553262438
GJC2
1 1.000 0.080 1 228157899 stop gained C/G snv 0.700 1.000 2 2008 2010