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: rs10900585
rs10900585
ATP2B4
1 1.000 0.040 1 203684896 intron variant G/T snv 0.81 0.810 1.000 2 2012 2013
dbSNP: rs12212067
rs12212067
FOXO3
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.020 1.000 2 2015 2016
dbSNP: rs17860508
rs17860508
LOC285626
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.020 1.000 2 2010 2018
dbSNP: rs281864519
rs281864519
HBB
1 1.000 0.040 11 5227003 frameshift variant CA/- del 0.700 1.000 2 2009 2012
dbSNP: rs10192428
rs10192428
SPATA3
1 1.000 0.040 2 231014025 3 prime UTR variant G/A snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs11036238
rs11036238 		2 1.000 0.040 11 5204405 upstream gene variant G/C snv 0.21 0.800 1.000 1 2009 2009
dbSNP: rs11198918
rs11198918
GRK5
1 1.000 0.040 10 119423068 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11213630
rs11213630 		1 1.000 0.040 11 110868831 intergenic variant A/G snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs11335470
rs11335470
LINC00944
1 1.000 0.040 12 126753075 intron variant T/- delins 0.94 0.700 1.000 1 2018 2018
dbSNP: rs113449872
rs113449872 		1 1.000 0.040 5 43909241 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs114169033
rs114169033
FRG1-DT
1 1.000 0.040 4 189796550 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1211375
rs1211375
LUC7L
4 1.000 0.040 16 190281 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12405994
rs12405994
LOC105378806
1 1.000 0.040 1 75969735 intron variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs12789492
rs12789492
MMP26
2 1.000 0.040 11 4772889 intron variant C/T snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12801757
rs12801757
MMP26
1 1.000 0.040 11 4785824 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12806476
rs12806476
MMP26
1 1.000 0.040 11 4785642 intron variant T/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12808215
rs12808215
MMP26
1 1.000 0.040 11 4786742 intron variant A/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs1417402
rs1417402
LOC105378806
1 1.000 0.040 1 75971511 intron variant G/A snv 7.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs144312179
rs144312179
FAM155A
1 1.000 0.040 13 107575665 intron variant A/G snv 7.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs1469170
rs1469170 		1 1.000 0.040 11 110870290 intergenic variant A/G snv 0.55 0.800 1.000 1 2013 2013
dbSNP: rs149085856
rs149085856 		1 1.000 0.040 17 12496210 intergenic variant C/-;CC;CCC delins 0.700 1.000 1 2018 2018
dbSNP: rs1505209
rs1505209 		1 1.000 0.040 11 4571047 downstream gene variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1543061
rs1543061
SPATA3
1 1.000 0.040 2 231013781 intron variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs1594812
rs1594812
MMP26
1 1.000 0.040 11 4777979 intron variant T/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs17227978
rs17227978
MMP26 ; OR51N1P
2 1.000 0.040 11 4787195 non coding transcript exon variant G/A snv 9.6E-02 0.700 1.000 1 2013 2013