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 0.730 0.750 4 2009 2019
dbSNP: rs41268753
rs41268753
GRHL3
3 0.882 0.200 1 24342967 missense variant C/T snv 2.3E-02 2.3E-02 0.730 0.750 4 2016 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.020 1.000 2 2010 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: rs2013162
rs2013162
IRF6
5 0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs2064163
rs2064163 		2 0.925 0.120 1 209875474 regulatory region variant G/T snv 0.30 0.700 1.000 1 2017 2017
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 0.010 1.000 1 2018 2018
dbSNP: rs2486668
rs2486668
GRHL3
6 0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17 0.010 < 0.001 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs481931
rs481931
ABCA4
3 0.882 0.120 1 94104460 intron variant G/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs545809
rs545809
GRHL3 ; STPG1
3 0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26 0.010 < 0.001 1 2016 2016
dbSNP: rs560426
rs560426
ABCA4
5 0.851 0.200 1 94087882 intron variant C/T snv 0.53 0.010 < 0.001 1 2010 2010
dbSNP: rs6540559
rs6540559 		2 0.925 0.120 1 209808680 upstream gene variant G/A snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs66515264
rs66515264
ABCA4
3 0.882 0.120 1 94092554 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs742071
rs742071
PAX7
2 0.925 0.120 1 18653380 intron variant G/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs75477785
rs75477785 		2 0.925 0.120 1 209811125 upstream gene variant T/G snv 3.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs7554547
rs7554547 		2 0.925 0.120 1 11913831 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs9439713
rs9439713
PAX7
3 0.882 0.120 1 18646282 intron variant G/A snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs9439714
rs9439714
PAX7
3 0.882 0.120 1 18649995 intron variant T/C snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs112800917
rs112800917
LOC105373887
2 0.925 0.120 2 219743055 intergenic variant CACAGAAT/- delins 0.54 0.700 1.000 1 2017 2017
dbSNP: rs113691307
rs113691307
LOC102724542
1 1.000 0.120 2 81801266 intergenic variant C/T snv 6.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1139
rs1139
ZNF385B
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011
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: rs146753226
rs146753226
SIX2
3 0.882 0.200 2 45006255 missense variant C/T snv 1.1E-04 4.0E-04 0.010 1.000 1 2020 2020