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: 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: rs104894170
rs104894170
PAX2
3 0.925 0.160 10 100749914 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs61755783
rs61755783
PRPH2
11 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.010 1.000 1 1996 1996