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 0.020 1.000 2 2012 2017
dbSNP: rs16139
rs16139
NPY ; LOC107986777
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.020 1.000 2 2000 2006
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 1.000 2 2007 2010
dbSNP: rs11196205
rs11196205
TCF7L2
7 0.827 0.200 10 113047288 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1160535157
rs1160535157
LAMP2
1 X 120449056 stop gained G/C snv 0.010 1.000 1 2007 2007
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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs1282382243
rs1282382243
DLEU1 ; DLEU7 ; DLEU7-AS1
8 0.807 0.120 13 50843630 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs137853298
rs137853298
TIMP3 ; SYN3
3 0.925 0.080 22 32859351 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2017 2017
dbSNP: rs281874657
rs281874657
COL4A5
3 0.925 0.160 X 108586717 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs281874727
rs281874727
COL4A5
2 1.000 0.160 X 108681837 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs2853502
rs2853502
CYTB ; ND5
2 1.000 0.200 MT 13276 missense variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs375090109
rs375090109
PRPH2
1 6 42722120 missense variant C/A;G snv 4.0E-06; 2.4E-05 0.010 1.000 1 1997 1997
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs62638634
rs62638634
RPGR
4 0.925 0.080 X 38322921 missense variant C/A snv 0.010 1.000 1 1998 1998
dbSNP: rs763544450
rs763544450
ERG
4 1.000 0.080 21 38445560 missense variant T/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.010 1.000 1 2011 2011
dbSNP: rs768435443
rs768435443
ABCA4
8 0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs771676129
rs771676129
CD36
7 0.827 0.080 7 80671082 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs773223321
rs773223321
MMRN1
1 4 89935190 missense variant G/A snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2002 2002