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: rs794728016
rs794728016
MET
2 1.000 7 116763206 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs387906271
rs387906271
CHD7
11 0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
dbSNP: rs398124619
rs398124619
USH2A
5 0.851 0.200 1 215970720 stop gained C/A snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs483353055
rs483353055
USH2A ; LOC105372918
6 0.827 0.200 1 216200031 missense variant C/T snv 0.700 0