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: 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: rs398123108
rs398123108
ABCD1
3 0.925 0.200 X 153743211 intron variant G/A;T snv 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: rs754944429
rs754944429
AP4E1
1 1.000 0.080 15 50997722 frameshift variant -/TATGT ins 3.2E-05; 8.0E-06 0.700 0
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: 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: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs864622269
rs864622269
ATL1
6 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs119476046
rs119476046
ATL1
5 0.827 0.240 14 50613343 missense variant C/T snv 0.700 0
dbSNP: rs863223926
rs863223926
CDK2AP1 ; C12orf65
2 0.925 0.080 12 123253769 frameshift variant -/ATCC delins 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: 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: 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: 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: 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: rs1060502224
rs1060502224
CYP7B1
1 1.000 0.080 8 64596876 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs121908611
rs121908611
CYP7B1
2 0.925 0.120 8 64596913 missense variant C/T snv 2.8E-05 6.3E-05 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: 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: rs770285398
rs770285398
CYP7B1
1 1.000 0.080 8 64616217 frameshift variant GTTT/- delins 2.8E-05 2.8E-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: 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: rs1085307110
rs1085307110
EPHB1 ; CEP63 ; KY
3 0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins 0.700 1.000 1 2017 2017