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: rs531630376
rs531630376
PCDH12
4 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019
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: rs777630688
rs777630688
RCBTB1
1 1.000 0.080 13 49552182 frameshift variant T/- delins 1.1E-04 3.5E-05 0.700 0
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
10 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs80358295
rs80358295
FZD4 ; PRSS23
2 0.925 0.080 11 86951471 frameshift variant GTCT/- delins 8.0E-06 2.1E-05 0.700 0
dbSNP: rs869312819
rs869312819
RCBTB1
2 0.925 0.080 13 49544736 splice donor variant C/T snv 4.0E-06 0.700 0