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: rs1160535157
rs1160535157
LAMP2
1 X 120449056 stop gained G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs12155400
rs12155400
HDAC9
2 7 18389298 intron variant A/G snv 2.9E-02 0.010 1.000 1 2013 2013
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: rs735286
rs735286
VEGFA
1 6 43776884 non coding transcript exon variant C/T snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs773223321
rs773223321
MMRN1
1 4 89935190 missense variant G/A snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2012 2017
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 2011 2011
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: rs201471607
rs201471607
ABCA4
7 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.010 1.000 1 2007 2007
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: 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: rs774038422
rs774038422
ERG
2 1.000 0.080 21 38391009 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs999947969
rs999947969
CD36
7 0.827 0.080 7 80671145 synonymous variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1249719
rs1249719
COL27A1
2 1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 0.010 1.000 1 2015 2015
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: rs3751624
rs3751624
MYO5C
2 1.000 0.120 15 52282973 intron variant C/T snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs1057518955
rs1057518955
ABCA4
2 1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 0.700 0
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: 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: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1800592
rs1800592 		8 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 0.010 1.000 1 2015 2015