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: rs1557110988
rs1557110988
1 1.000 0.080 X 49230253 stop gained G/A snv 0.700 0
dbSNP: rs748046539
rs748046539
1 1.000 0.080 15 31028451 missense variant A/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs770380556
rs770380556
1 1.000 0.080 15 31028410 frameshift variant -/A delins 0.700 0
dbSNP: rs781610444
rs781610444
1 1.000 0.080 15 31067057 splice donor variant TTAC/- delins 1.6E-05 2.8E-05 0.700 0
dbSNP: rs782604129
rs782604129
1 1.000 0.080 10 47349309 inframe deletion TTC/- delins 2.0E-05 0.700 0
dbSNP: rs886043488
rs886043488
1 1.000 0.080 17 38339517 stop gained ACCTG/GTAGATCA delins 0.700 0
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
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
3 0.882 0.080 4 653912 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs122456133
rs122456133
3 0.882 0.080 X 49228048 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1312230897
rs1312230897
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
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
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
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
1 1.000 0.080 5 178994793 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1446132180
rs1446132180
1 1.000 0.080 11 86954820 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1448980326
rs1448980326
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
2 0.925 0.080 17 38334016 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs376610215
rs376610215
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
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
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: rs397509380
rs397509380
2 0.925 0.080 4 109870285 frameshift variant CT/- delins 0.010 1.000 1 2013 2013
dbSNP: rs748724069
rs748724069
1 1.000 0.080 5 178986948 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2019 2019