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: rs104893790
rs104893790
RHO
4 0.851 0.080 3 129529002 missense variant G/A snv 0.040 1.000 4 1994 2016
dbSNP: rs104893796
rs104893796
RHO
4 0.851 0.080 3 129529014 missense variant C/T snv 0.040 1.000 4 1999 2016
dbSNP: rs104893740
rs104893740
GNAT1
2 0.925 0.080 3 50193139 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs104893789
rs104893789
RHO
3 0.882 0.080 3 129532711 missense variant C/A snv 0.010 1.000 1 1993 1993
dbSNP: rs121918582
rs121918582
PDE6B ; PDE6B-AS1
3 0.882 0.080 4 653912 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs122456133
rs122456133
CACNA1F
3 0.882 0.080 X 49228048 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs122456134
rs122456134
CACNA1F
2 0.925 0.080 X 49218511 stop gained G/A snv 0.700 1.000 1 1998 1998
dbSNP: rs1312230897
rs1312230897
TRPM1
1 1.000 0.080 15 31063133 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1320189389
rs1320189389
PDE6B
1 1.000 0.080 4 665291 missense variant G/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1349949257
rs1349949257
LPAR3
1 1.000 0.080 1 84865849 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1390870221
rs1390870221
PDE6B ; PDE6B-AS1
1 1.000 0.080 4 657370 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1413749549
rs1413749549
GRM6
1 1.000 0.080 5 178994793 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1446132180
rs1446132180
FZD4 ; FZD4-DT
1 1.000 0.080 11 86954820 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1448980326
rs1448980326
PDE6B
1 1.000 0.080 4 662539 missense variant C/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs281875234
rs281875234
GPR179
2 0.925 0.080 17 38334016 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs376610215
rs376610215
LRIT3
2 0.925 0.080 4 109869732 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs397509378
rs397509378
LRIT3
2 0.925 0.080 4 109870067 stop gained C/A;T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs397509379
rs397509379
LRIT3
2 0.925 0.080 4 109869900 stop gained C/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs61751398
rs61751398
ABCA4
2 0.925 0.080 1 94042830 stop gained C/A;T snv 1.2E-05 1.4E-05 0.700 1.000 1 2002 2002
dbSNP: rs62638197
rs62638197
GRM6
2 0.925 0.080 5 178994808 missense variant G/A snv 9.2E-05 0.700 1.000 1 2005 2005
dbSNP: rs748724069
rs748724069
GRM6
1 1.000 0.080 5 178986948 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs786205853
rs786205853
GNAT1
2 0.925 0.080 3 50194111 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs122456135
rs122456135
CACNA1F
2 0.925 0.080 X 49219344 stop gained G/A snv 0.700 0
dbSNP: rs1485132228
rs1485132228
TRPM1 ; LOC105370752
2 0.925 0.080 15 31035551 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1553186509
rs1553186509
ABCA4
1 1.000 0.080 1 94001914 missense variant T/C snv 0.700 0