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: rs61755792
rs61755792
PRPH2
10 0.763 0.160 6 42721821 missense variant G/A;C snv 0.710 1.000 1 1996 1996
dbSNP: rs1557787756
rs1557787756
ABCA4
1 1 94063158 stop gained G/A snv 0.700 0
dbSNP: rs587777011
rs587777011
FAM111A
7 0.925 0.160 11 59153374 missense variant G/A snv 0.700 0
dbSNP: rs61751377
rs61751377
ABCA4
2 1.000 1 94019581 splice donor variant C/T snv 2.2E-05 7.0E-06 0.700 0
dbSNP: rs61751389
rs61751389
ABCA4
4 0.925 0.040 1 94007722 frameshift variant C/- del 2.8E-05 7.0E-06 0.700 0
dbSNP: rs61755783
rs61755783
PRPH2
11 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs62642574
rs62642574
ABCA4
2 1.000 1 94024994 missense variant C/T snv 1.1E-04 6.3E-05 0.700 0
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.020 1.000 2 2009 2016
dbSNP: rs11873439
rs11873439
CCDC102B
2 1.000 0.040 18 69077051 intergenic variant A/C snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
5 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs148060787
rs148060787
FTH1 ; BEST1
5 0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2001 2001
dbSNP: rs150418024
rs150418024
MFSD8
2 1.000 4 127921956 missense variant C/G;T snv 2.4E-03; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs150427474
rs150427474
AIPL1
2 1.000 0.040 17 6425644 missense variant C/A;T snv 3.8E-03; 8.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs1800995
rs1800995
BEST1 ; LOC107984334
5 0.851 0.080 11 61955906 missense variant GC/AA mnv 0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142
BEST1 ; LOC107984334
5 0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05 0.010 1.000 1 2001 2001
dbSNP: rs200060005
rs200060005
FBN2
2 1.000 5 128338975 missense variant C/G;T snv 4.0E-06; 4.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs281865275
rs281865275
BEST1 ; LOC107984334
5 0.851 0.080 11 61957397 missense variant C/G;T snv 8.0E-06; 2.8E-05 0.010 1.000 1 2001 2001
dbSNP: rs281875321
rs281875321
SMAD4
3 0.925 0.360 18 51078307 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs551519696
rs551519696
TULP1
1 6 35503624 missense variant G/A;T snv 4.5E-06; 9.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs62637015
rs62637015
AIPL1
2 1.000 0.040 17 6425710 missense variant C/A;T snv 2.6E-03; 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs745897683
rs745897683
GUCY2D
2 1.000 0.040 17 8004035 missense variant G/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs772400670
rs772400670
CYP2U1 ; LOC107986298
3 0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05 0.010 1.000 1 2016 2016