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: rs126280
rs126280
UTP25
1 1.000 0.080 1 209846479 intron variant A/G;T snv 0.700 1.000 2 2010 2012
dbSNP: rs1470206
rs1470206
CCDC26 ; LINC00976
1 1.000 0.080 8 128965218 intron variant T/C snv 0.54 0.700 1.000 2 2010 2012
dbSNP: rs1519841
rs1519841
CCDC26
1 1.000 0.080 8 128907554 intron variant T/C;G snv 0.700 1.000 2 2010 2012
dbSNP: rs1519847
rs1519847
CCDC26
1 1.000 0.080 8 128903514 intron variant C/T snv 0.46 0.700 1.000 2 2010 2012
dbSNP: rs1519849
rs1519849
CCDC26
1 1.000 0.080 8 128884721 intron variant T/A;C snv 0.63 0.700 1.000 2 2010 2012
dbSNP: rs1519850
rs1519850
CCDC26
1 1.000 0.080 8 128884575 intron variant C/T snv 0.77 0.700 1.000 2 2010 2012
dbSNP: rs1530300
rs1530300
CCDC26
1 1.000 0.080 8 128907212 intron variant T/C snv 0.24 0.700 1.000 2 2010 2012
dbSNP: rs16260
rs16260
CDH1
19 0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 0.020 1.000 2 2011 2013
dbSNP: rs17352100
rs17352100 		1 1.000 0.080 1 18625618 intergenic variant C/A;T snv 0.700 1.000 2 2010 2012
dbSNP: rs17820943
rs17820943
LOC102724968
2 0.925 0.120 20 40639876 regulatory region variant C/T snv 0.36 0.700 1.000 2 2010 2012
dbSNP: rs1850889
rs1850889
CCDC26
1 1.000 0.080 8 128878159 intron variant A/G snv 0.72 0.700 1.000 2 2010 2012
dbSNP: rs2004375
rs2004375
CCDC26
1 1.000 0.080 8 128990484 intron variant C/T snv 0.16 0.700 1.000 2 2009 2012
dbSNP: rs2073485
rs2073485
IRF6
1 1.000 0.080 1 209789449 intron variant G/A snv 0.21 0.700 1.000 2 2010 2012
dbSNP: rs2395855
rs2395855
CCDC26
1 1.000 0.080 8 128828493 intron variant T/A;C snv 0.700 1.000 2 2010 2012
dbSNP: rs2485893
rs2485893 		1 1.000 0.080 1 210174810 downstream gene variant A/G snv 0.68 0.700 1.000 2 2010 2012
dbSNP: rs2872615
rs2872615 		2 0.925 0.120 17 9011376 intergenic variant T/C snv 0.23 0.800 1.000 2 2012 2017
dbSNP: rs4132699
rs4132699
SEMA4D
2 0.925 0.120 9 89421512 intron variant A/C snv 0.43 0.800 1.000 2 2012 2017
dbSNP: rs4147812
rs4147812
ABCA4
1 1.000 0.080 1 94109487 intron variant A/C;T snv 0.700 1.000 2 2010 2012
dbSNP: rs4733532
rs4733532
CCDC26
1 1.000 0.080 8 128869053 intron variant G/A;C snv 0.700 1.000 2 2010 2012
dbSNP: rs4791774
rs4791774
NTN1
4 0.882 0.240 17 9028802 intron variant A/C;G snv 0.710 1.000 2 2015 2019
dbSNP: rs481931
rs481931
ABCA4
3 0.882 0.120 1 94104460 intron variant G/T snv 0.32 0.800 1.000 2 2010 2017
dbSNP: rs560426
rs560426
ABCA4
5 0.851 0.200 1 94087882 intron variant C/T snv 0.53 0.710 0.500 2 2010 2012
dbSNP: rs6065259
rs6065259
LOC102724968
2 0.925 0.200 20 40633339 intergenic variant G/A snv 0.38 0.700 1.000 2 2010 2012
dbSNP: rs6102085
rs6102085 		1 1.000 0.080 20 40652989 intergenic variant G/A snv 0.66 0.700 1.000 2 2010 2012
dbSNP: rs7590268
rs7590268
THADA
1 1.000 0.080 2 43312986 intron variant T/G snv 0.22 0.800 1.000 2 2010 2012