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: rs753611141
rs753611141
PMPCA
14 0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs768643552
rs768643552
PMPCA
13 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs62636299
rs62636299
RPE65
4 0.882 0.040 1 68431371 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs62653011
rs62653011
RPE65
4 0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918632
rs121918632
SCN1A ; SCN1A-AS1 ; LOC102724058
5 0.851 0.120 2 165996099 missense variant A/G snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs151045328
rs151045328
USH1C
5 0.851 0.200 11 17531431 synonymous variant C/T snv 3.6E-05 2.1E-05 0.010 1.000 1 2013 2013
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