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: rs227731
rs227731 		4 0.882 0.120 17 56695877 intergenic variant T/A;G snv 0.800 1.000 5 2010 2018
dbSNP: rs10779526
rs10779526 		1 1.000 0.080 1 210178851 intergenic variant T/A;C;G snv 0.700 1.000 2 2010 2012
dbSNP: rs12060567
rs12060567 		1 1.000 0.080 1 210197245 intergenic variant G/A;C snv 0.700 1.000 2 2010 2012
dbSNP: rs12548036
rs12548036
CCDC26
1 1.000 0.080 8 128935636 intron variant G/A;T snv 0.700 1.000 2 2010 2012
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: rs1519841
rs1519841
CCDC26
1 1.000 0.080 8 128907554 intron variant T/C;G snv 0.700 1.000 2 2010 2012
dbSNP: rs17352100
rs17352100 		1 1.000 0.080 1 18625618 intergenic variant C/A;T snv 0.700 1.000 2 2010 2012
dbSNP: rs2235375
rs2235375
IRF6
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.020 0.500 2 2015 2018
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: 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: rs7632427
rs7632427 		2 0.925 0.160 3 89485227 downstream gene variant T/A;C snv 0.700 1.000 2 2010 2012
dbSNP: rs1030609
rs1030609
CCDC26
1 1.000 0.080 8 128727631 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs10511145
rs10511145 		1 1.000 0.080 3 89548529 intergenic variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10512248
rs10512248
PTCH1
4 0.925 0.120 9 95497421 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs11072494
rs11072494
ARID3B
2 0.925 0.120 15 74596822 3 prime UTR variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11466285
rs11466285
TGFA
5 0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11582254
rs11582254
TMCO4
2 0.925 0.120 1 19691584 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
17 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
dbSNP: rs1269636220
rs1269636220
WDR11
5 0.851 0.280 10 120865109 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1306416169
rs1306416169
NSMF
5 0.851 0.280 9 137453808 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1487309678
rs1487309678
SEMA3A
5 0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1546124
rs1546124
CRISPLD2
7 0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 0.010 1.000 1 2011 2011