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: rs1312074632
rs1312074632
PCDH15
1 1.000 0.040 10 53823066 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs147876778
rs147876778
CNGB3
6 0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs149648640
rs149648640
PUM3 ; KCNV2
2 0.925 0.080 9 2729470 stop gained G/A;T snv 1.3E-04; 2.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs61755766
rs61755766
PRPH2
1 1.000 0.040 6 42722255 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs759359491
rs759359491
RDH5 ; BLOC1S1-RDH5
3 0.882 0.040 12 55721287 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs76216585
rs76216585
POC1B
9 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.010 1.000 1 2014 2014