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: rs61750172
rs61750172
GUCY2D
8 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.040 1.000 4 1998 2007
dbSNP: rs104893968
rs104893968
GUCA1A
8 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.020 1.000 2 2001 2001
dbSNP: rs28933695
rs28933695
GUCY2D
4 0.851 0.080 17 8014699 missense variant G/C snv 0.020 1.000 2 1998 1999
dbSNP: rs76216585
rs76216585
POC1B
9 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.020 1.000 2 2014 2014
dbSNP: rs1024983534
rs1024983534
TERT
3 0.882 0.080 5 1294569 missense variant C/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs104893782
rs104893782
RHO
3 0.882 0.080 3 129532340 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs104894671
rs104894671
CRX
4 0.851 0.080 19 47836381 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs104894672
rs104894672
CRX
3 0.882 0.080 19 47836263 missense variant C/T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs104894673
rs104894673
CRX
8 0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1060503013
rs1060503013
TERT
3 0.882 0.080 5 1294844 missense variant G/A;C snv 1.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs121434631
rs121434631
GUCA1A
6 0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1234399841
rs1234399841
FAM161A
3 0.882 0.080 2 61839728 missense variant A/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs146705250
rs146705250
ERG
3 0.882 0.080 21 38403679 missense variant C/T snv 8.0E-06 4.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs200707391
rs200707391
CC2D2A
3 0.882 0.160 4 15557452 missense variant G/A;C;T snv 1.7E-04; 4.1E-06; 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs201070350
rs201070350
TULP1
1 1.000 0.080 6 35506101 stop gained G/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs202210819
rs202210819
KIZ
3 0.882 0.080 20 21136463 stop gained C/T snv 4.9E-04 3.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs2230516
rs2230516
MERTK
1 1.000 0.080 2 112028457 missense variant C/A;T snv 1.9E-03 0.010 1.000 1 2004 2004
dbSNP: rs281865404
rs281865404
ABCA4
4 0.851 0.080 1 94014675 missense variant GG/CA mnv 0.010 1.000 1 2007 2007
dbSNP: rs541717028
rs541717028
MERTK
2 0.925 0.080 2 112019497 stop gained C/T snv 8.0E-06 4.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs587777376
rs587777376
KIZ
2 0.925 0.080 20 21126167 stop gained G/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs587777377
rs587777377
KIZ
2 0.925 0.080 20 21132126 frameshift variant AACT/- del 3.3E-05 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs61748436
rs61748436
CRX
4 0.851 0.080 19 47836264 missense variant G/A snv 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs61748459
rs61748459
CRX
3 0.882 0.080 19 47839791 missense variant G/A snv 1.2E-03 5.1E-03 0.010 1.000 1 2003 2003
dbSNP: rs61750173
rs61750173
GUCY2D
6 0.827 0.080 17 8014701 missense variant G/A snv 0.010 1.000 1 2004 2004