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: rs121918327
rs121918327
BBS12
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs878853379
rs878853379
CLRN1 ; CLRN1-AS1
1 3 150972611 stop gained C/T snv 0.700 0
dbSNP: rs878853351
rs878853351
LRAT
1 4 154744799 stop gained G/A snv 0.700 0
dbSNP: rs878853400
rs878853400
PROM1
1 4 15984327 frameshift variant G/- delins 0.700 0
dbSNP: rs137853005
rs137853005
PROM1
3 0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs762078182
rs762078182
PROM1
1 4 15994057 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs372513650
rs372513650
PROM1
1 4 15998489 splice acceptor variant C/G snv 3.0E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs137853907
rs137853907
PROM1
1 4 16000517 stop gained G/T snv 2.8E-05 8.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs543698823
rs543698823
PROM1
4 0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 0.700 1.000 1 2009 2009
dbSNP: rs746174328
rs746174328
PROM1
2 1.000 0.080 4 16009072 frameshift variant AT/- delins 0.700 0
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.710 1.000 2 2008 2010
dbSNP: rs1196489060
rs1196489060
PROM1
1 4 16018318 splice region variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs373331232
rs373331232
PROM1
1 4 16023380 stop gained G/A;C snv 1.7E-05 0.700 1.000 1 2014 2014
dbSNP: rs780697796
rs780697796
PROM1
2 1.000 0.080 4 16033377 stop gained G/A;T snv 1.2E-05; 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs878853387
rs878853387
PRPF8
1 17 1662014 frameshift variant TGAGT/- delins 0.700 0
dbSNP: rs759025536
rs759025536
LRP2
1 2 169185615 missense variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs111733491
rs111733491
LRP2
1 2 169236027 missense variant C/A;G;T snv 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs1553512879
rs1553512879
CERKL
1 2 181544799 splice region variant G/C snv 0.700 0
dbSNP: rs750151209
rs750151209
CERKL
1 2 181548785 frameshift variant AT/- del 1.2E-05 0.700 0
dbSNP: rs121909398
rs121909398
CERKL
7 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs569826109
rs569826109
CERKL
2 1.000 0.080 2 181604002 missense variant G/A;T snv 5.2E-05; 5.2E-05 0.700 1.000 1 2008 2008
dbSNP: rs201186440
rs201186440
CERKL
1 2 181656814 stop gained C/A;T snv 1.3E-04 0.700 0
dbSNP: rs61752067
rs61752067
RS1 ; CDKL5
3 0.925 0.040 X 18647213 missense variant G/A snv 5.5E-06 0.700 1.000 1 2016 2016
dbSNP: rs1553249226
rs1553249226
CRB1
1 1 197328605 missense variant G/A snv 0.700 0
dbSNP: rs878853366
rs878853366
CRB1
1 1 197344433 frameshift variant -/A delins 0.700 0