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 0.020 1.000 2 1994 2011
dbSNP: rs104893796
rs104893796
RHO
4 0.851 0.080 3 129529014 missense variant C/T snv 0.020 1.000 2 2003 2003
dbSNP: rs122456133
rs122456133
3 0.882 0.080 X 49228048 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs201153410
rs201153410
SAG
2 0.925 0.080 2 233328542 stop gained C/T snv 1.3E-04 2.0E-04 0.010 < 0.001 1 2012 2012
dbSNP: rs397514682
rs397514682
SAG
2 0.925 0.080 2 233335071 stop gained G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs570621429
rs570621429
2 0.925 0.080 13 113731321 missense variant C/A;T snv 7.1E-06; 7.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs753470112
rs753470112
1 1.000 0.080 13 113671594 missense variant T/C snv 0.010 1.000 1 2016 2016