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: rs137854466
rs137854466
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs1423415130
rs1423415130
6 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1555976049
rs1555976049
1 1.000 0.040 X 43949889 frameshift variant -/TTCA delins 0.700 0
dbSNP: rs397515804
rs397515804
11 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
dbSNP: rs80358284
rs80358284
10 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs2229094
rs2229094
17 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 0.010 1.000 1 2018 2018
dbSNP: rs2279744
rs2279744
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs372029024
rs372029024
1 1.000 0.040 17 50188110 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2016 2016