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: rs1469170
rs1469170 		1 1.000 0.040 11 110870290 intergenic variant A/G snv 0.55 0.800 1.000 1 2013 2013
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: 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: rs1801704
rs1801704
ADRB2
3 0.882 0.200 5 148826812 5 prime UTR variant C/T snv 0.68 0.68 0.010 1.000 1 2013 2013
dbSNP: rs3024944
rs3024944
STAT6
1 1.000 0.040 12 57111665 intron variant C/G snv 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs34383331
rs34383331
MIF-AS1
3 0.882 0.040 22 23895892 non coding transcript exon variant T/A snv 0.19 0.18 0.010 1.000 1 2013 2013
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs6755404
rs6755404
ZNF804A
1 1.000 0.040 2 184932501 intron variant A/C snv 0.82 0.800 1.000 1 2013 2013
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: rs708567
rs708567
IL17RC
6 0.807 0.200 3 9918386 missense variant C/T snv 0.46 0.51 0.010 1.000 1 2013 2013
dbSNP: rs7855466
rs7855466 		3 0.925 0.080 9 133245916 downstream gene variant C/T snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs8176672
rs8176672
ABO
2 1.000 0.040 9 133266772 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs8176693
rs8176693
ABO
9 0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs8176722
rs8176722
ABO
3 1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12 0.800 1.000 1 2013 2013
dbSNP: rs8176743
rs8176743
ABO
7 1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11 0.700 1.000 1 2013 2013
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.700 1.000 1 2013 2013
dbSNP: rs8176749
rs8176749
ABO
7 1.000 0.040 9 133255801 synonymous variant C/T snv 0.12 0.11 0.700 1.000 1 2013 2013
dbSNP: rs8176751
rs8176751
ABO
1 1.000 0.040 9 133255635 synonymous variant C/A;T snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs9940464
rs9940464
CDH13
1 1.000 0.040 16 83327170 intron variant T/C snv 0.39 0.800 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2016