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: rs1303
rs1303
SERPINA1
4 0.925 0.040 14 94378506 missense variant T/G snv 0.28 0.22 0.700 1.000 1 2012 2012
dbSNP: rs4841132
rs4841132
LOC157273
14 8 9326086 non coding transcript exon variant A/G snv 0.89 0.700 1.000 1 2012 2012
dbSNP: rs2390582
rs2390582
LOC105378851
1 1 90478350 intergenic variant A/G snv 0.15 0.800 1.000 1 2007 2007
dbSNP: rs1440581
rs1440581
PPM1K-DT
4 1.000 0.080 4 88305270 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs76294234
rs76294234 		2 1.000 0.080 4 83241025 intron variant A/G snv 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs113805659
rs113805659
MAGI2
2 1.000 0.080 7 78663475 intron variant G/C snv 6.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs2168889
rs2168889 		1 4 74357994 intergenic variant A/G snv 4.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs16850360
rs16850360 		2 4 74006728 intron variant A/G snv 4.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs12507628
rs12507628 		1 4 72779634 regulatory region variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs10500569
rs10500569
LOC107984814
1 16 72722202 intron variant G/A;C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs217181
rs217181
TXNL4B
6 16 72080103 intron variant C/T snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs1851024
rs1851024 		1 4 71842104 intergenic variant G/A snv 0.93 0.700 1.000 1 2012 2012
dbSNP: rs4788815
rs4788815
LOC105371334
3 16 71600908 intergenic variant A/T snv 0.69 0.700 1.000 1 2012 2012
dbSNP: rs1481805
rs1481805 		2 1.000 0.080 8 71121190 intron variant A/T snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs10211524
rs10211524
LINC02245 ; LOC107984063
4 2 64980940 intron variant G/A snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs741013
rs741013
PRICKLE2
1 3 64306961 intron variant A/T snv 6.0E-02 0.800 1.000 1 2013 2013
dbSNP: rs17404667
rs17404667
PRICKLE2
1 3 64288876 intron variant C/G snv 6.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs74910095
rs74910095 		2 1.000 0.080 5 63545132 intergenic variant T/A snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs10889332
rs10889332
DOCK7
4 1.000 0.120 1 62485187 3 prime UTR variant C/T snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs74155456
rs74155456 		2 1.000 0.080 10 61070020 intergenic variant T/C snv 2.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs2306786
rs2306786
MYO1E
1 15 59195731 intron variant C/G snv 8.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs1532085
rs1532085
ALDH1A2
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs16939881
rs16939881
AQP9 ; ALDH1A2
2 15 58179780 intron variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs173539
rs173539 		11 0.882 0.080 16 56954132 intergenic variant C/T snv 0.33 0.700 1.000 1 2012 2012