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: rs2235371
rs2235371
IRF6
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.740 1.000 5 2004 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 1998 2019
dbSNP: rs2064163
rs2064163 		2 0.925 0.120 1 209875474 regulatory region variant G/T snv 0.30 0.800 1.000 3 2010 2017
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.030 1.000 3 2010 2012
dbSNP: rs742071
rs742071
PAX7
2 0.925 0.120 1 18653380 intron variant G/T snv 0.39 0.800 1.000 3 2010 2017
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: rs12094311
rs12094311 		1 1.000 0.080 1 210195791 intergenic variant A/G snv 0.16 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: rs17015169
rs17015169
TRAF3IP3
1 1.000 0.080 1 209763569 synonymous variant C/T snv 0.28 0.36 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: 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: 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: 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: rs4147812
rs4147812
ABCA4
1 1.000 0.080 1 94109487 intron variant A/C;T snv 0.700 1.000 2 2010 2012
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: rs861020
rs861020
IRF6
1 1.000 0.080 1 209803766 intron variant A/G snv 0.82 0.700 1.000 2 2010 2012
dbSNP: rs9439714
rs9439714
PAX7
3 0.882 0.120 1 18649995 intron variant T/C snv 0.28 0.800 1.000 2 2012 2017
dbSNP: rs952499
rs952499
ABCA4
1 1.000 0.080 1 94092869 intron variant T/C snv 0.45 0.700 1.000 2 2010 2012
dbSNP: rs1044516
rs1044516
IRF6 ; C1orf74
1 1.000 0.080 1 209786269 3 prime UTR variant G/T snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs10863790
rs10863790 		1 1.000 0.080 1 209814702 regulatory region variant A/C snv 3.9E-02 0.800 1.000 1 2010 2010
dbSNP: rs11119388
rs11119388
SYT14
1 1.000 0.080 1 210001072 intron variant A/G snv 4.4E-02 0.700 1.000 1 2010 2010
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: rs12063989
rs12063989 		1 1.000 0.080 1 209876548 regulatory region variant T/C snv 3.8E-02 0.700 1.000 1 2010 2010