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: 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
dbSNP: rs17228092
rs17228092
MMP26
2 1.000 0.040 11 4789134 intron variant T/C snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs17228176
rs17228176
MMP26
2 1.000 0.040 11 4790570 intron variant A/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs17228183
rs17228183
MMP26
2 1.000 0.040 11 4790653 intron variant G/A snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs17325567
rs17325567
MMP26 ; OR51N1P
2 1.000 0.040 11 4786903 non coding transcript exon variant T/C snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs17624383
rs17624383 		1 1.000 0.040 7 53609144 intergenic variant G/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs17728971
rs17728971 		1 1.000 0.040 14 45998628 intron variant A/G snv 0.39 0.700 1.000 1 2009 2009
dbSNP: rs186873296
rs186873296 		1 1.000 0.040 4 143781321 intron variant A/G snv 2.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs1878468
rs1878468
TENM3 ; TENM3-AS1
1 1.000 0.040 4 181901179 intron variant G/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs2967790
rs2967790
KLHL3
1 1.000 0.040 5 137676072 intron variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs3133394
rs3133394
LOC105369574
1 1.000 0.040 11 130547627 upstream gene variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs316414
rs316414 		1 1.000 0.040 5 43004178 downstream gene variant A/G snv 0.67 0.700 1.000 1 2009 2009
dbSNP: rs488069
rs488069
POMGNT2 ; LOC107986079
2 0.925 0.080 3 43090952 intron variant C/T snv 0.79 0.700 1.000 1 2009 2009
dbSNP: rs4951074
rs4951074
ATP2B4
3 1.000 0.040 1 203691653 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs6572335
rs6572335 		1 1.000 0.040 14 45965382 intron variant A/G snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs6588252
rs6588252 		1 1.000 0.040 1 67273345 upstream gene variant G/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs6682413
rs6682413 		1 1.000 0.040 1 67265931 downstream gene variant G/A snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs7023548
rs7023548
LOC105376290
1 1.000 0.040 9 129246489 regulatory region variant C/G;T snv 2.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs73505850
rs73505850
CSMD1
1 1.000 0.040 8 4897316 intron variant G/A snv 2.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs73832816
rs73832816 		1 1.000 0.040 4 99508600 upstream gene variant G/A snv 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs77641731
rs77641731
ABO
3 1.000 0.040 9 133257521 missense variant T/C snv 0.700 1.000 1 2012 2012