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: 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
dbSNP: rs1331505548
rs1331505548
KIF5C
2 0.925 0.200 2 148949891 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1364050643
rs1364050643
REEP1
5 0.851 0.240 2 86232711 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs797045050
rs797045050
KIF1A
6 0.807 0.120 2 240797715 missense variant C/T snv 0.700 1.000 1 2016 2016
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: rs1060499939
rs1060499939
SPAST
4 0.882 0.120 2 32137172 missense variant G/C;T snv 0.700 0
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: rs767350733
rs767350733
ALS2
7 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs869312880
rs869312880
REEP1
5 0.882 0.120 2 86232624 splice donor variant C/T snv 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: 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: 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: rs1562502139
rs1562502139
FAM126A
2 0.925 0.200 7 22983996 frameshift variant TT/- del 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: 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: rs1060502224
rs1060502224
CYP7B1
1 1.000 0.080 8 64596876 frameshift variant -/A delins 8.0E-06 0.700 0