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: rs1567499068
rs1567499068
SCAPER
6 0.882 0.160 15 76574190 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs111033272
rs111033272
USH2A
7 0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 0.700 0
dbSNP: rs1554863016
rs1554863016
KIF11
5 0.882 0.240 10 92648211 splice acceptor variant G/A snv 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs61755787
rs61755787
PRPH2
5 0.882 0.120 6 42721866 missense variant C/T snv 0.700 0