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: rs137852840
rs137852840
WHRN
1 1.000 0.200 9 114504495 stop gained G/A snv 4.1E-06 0.700 0
dbSNP: rs80338902
rs80338902
USH2A
10 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.030 1.000 3 2004 2018
dbSNP: rs1185695012
rs1185695012
WHRN
2 0.925 0.200 9 114403898 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121909762
rs121909762
ADGRV1
4 0.851 0.200 5 90690991 stop gained C/G;T snv 4.0E-06; 4.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs397517255
rs397517255
WHRN
2 0.925 0.200 9 114424483 stop gained G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs777488822
rs777488822
PDC ; PDC-AS1
1 1.000 0.200 1 186444188 missense variant C/T snv 1.2E-05 2.8E-05 0.010 < 0.001 1 1996 1996
dbSNP: rs781214034
rs781214034
EDNRB ; EDNRB-AS1
10 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.010 1.000 1 2017 2017