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: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.100 1.000 22 1991 2019
dbSNP: rs121912631
rs121912631
NR2E3
4 0.851 0.080 15 71811530 missense variant G/A;T snv 0.050 1.000 5 2007 2019
dbSNP: rs121912550
rs121912550
IMPDH1
5 0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06 0.040 1.000 4 2005 2006
dbSNP: rs29001566
rs29001566
RHO
10 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.040 1.000 4 1991 2015
dbSNP: rs29001653
rs29001653
RHO
2 0.925 0.080 3 129532722 missense variant A/G snv 0.040 1.000 4 1994 2006
dbSNP: rs104893779
rs104893779
RHO
4 0.851 0.080 3 129532288 missense variant G/A;T snv 4.0E-06 0.030 1.000 3 2008 2019
dbSNP: rs104894082
rs104894082
RP1
3 0.882 0.080 8 54625911 stop gained C/T snv 0.030 1.000 3 2003 2015
dbSNP: rs28933394
rs28933394
RHO
3 0.882 0.080 3 129528906 missense variant C/G;T snv 9.1E-05 0.030 1.000 3 1991 2008
dbSNP: rs527236100
rs527236100
RHO
4 0.851 0.080 3 129532282 missense variant G/A snv 0.030 1.000 3 1996 2015
dbSNP: rs775557680
rs775557680
RHO
3 0.882 0.080 3 129532261 missense variant G/A;C snv 8.0E-06 0.030 1.000 3 1994 2004
dbSNP: rs104893769
rs104893769
RHO
6 0.807 0.160 3 129528783 missense variant C/T snv 7.0E-06 0.020 1.000 2 2013 2017
dbSNP: rs104893775
rs104893775
RHO
7 0.807 0.160 3 129530917 missense variant C/T snv 0.020 1.000 2 1996 2008
dbSNP: rs104894459
rs104894459
NRL
4 0.882 0.080 14 24082701 missense variant A/T snv 0.020 1.000 2 2000 2003
dbSNP: rs121434241
rs121434241
PRPF3
3 0.882 0.080 1 150344216 missense variant C/T snv 0.020 1.000 2 2004 2010
dbSNP: rs397514516
rs397514516
NRL
3 0.882 0.080 14 24082562 missense variant A/G snv 4.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs61755805
rs61755805
PRPH2
3 0.882 0.080 6 42704547 missense variant G/A snv 0.020 1.000 2 1994 1995
dbSNP: rs1040241545
rs1040241545
MFRP ; C1QTNF5
1 1.000 0.080 11 119340235 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1042253
rs1042253
IMPDH1
4 0.851 0.120 7 128398543 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs104893773
rs104893773
RHO
3 0.882 0.080 3 129529049 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs104893778
rs104893778
RHO
2 0.925 0.080 3 129533701 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs104893781
rs104893781
RHO
3 0.882 0.080 3 129532636 missense variant C/T snv 0.010 1.000 1 1997 1997
dbSNP: rs104893782
rs104893782
RHO
3 0.882 0.080 3 129532340 missense variant T/G snv 0.010 1.000 1 2020 2020
dbSNP: rs104893786
rs104893786
RHO
3 0.882 0.080 3 129528777 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs104893787
rs104893787
RHO
3 0.882 0.080 3 129529062 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs104893788
rs104893788
RHO
2 0.925 0.080 3 129529074 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 1995 1995