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: rs111703385
rs111703385 		1 1.000 0.040 8 8642006 intergenic variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs118067775
rs118067775
KANSL2
1 1.000 0.040 12 48679011 intron variant T/A;C snv 2.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs12993904
rs12993904
SILC1
1 1.000 0.040 2 5999574 intron variant C/G snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs144803255
rs144803255
TEX9
1 1.000 0.040 15 56403547 intron variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs148071215
rs148071215 		1 1.000 0.040 14 82806309 intergenic variant G/A snv 2.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs41314643
rs41314643
NMNAT2
1 1.000 0.040 1 183286773 missense variant T/C snv 1.2E-02 1.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs41549217
rs41549217
HLA-B ; MIR6891
1 1.000 0.040 6 31356108 non coding transcript exon variant G/T snv 5.2E-02 2.3E-03 0.700 1.000 1 2014 2014
dbSNP: rs45495792
rs45495792
RAD23A
1 1.000 0.040 19 12951613 intron variant A/G snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs116869525
rs116869525 		2 0.925 0.160 6 32421366 intergenic variant C/T snv 3.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs17193122
rs17193122 		2 0.925 0.160 6 31367559 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs17201248
rs17201248
SNORD52 ; SNORD48 ; SNHG32
2 0.925 0.160 6 31835353 non coding transcript exon variant C/G;T snv 4.3E-06; 2.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs2228391
rs2228391
TAP2
3 0.882 0.160 6 32829996 missense variant T/C snv 1.3E-02 3.9E-03 0.700 1.000 1 2015 2015
dbSNP: rs2596449
rs2596449
HCP5 ; HCG26
2 0.925 0.160 6 31470613 non coding transcript exon variant A/G snv 0.79 0.700 1.000 1 2015 2015
dbSNP: rs56343172
rs56343172
PHLDB2
2 0.925 0.160 3 111868398 intron variant C/T snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs7768644
rs7768644
MUC22
2 0.925 0.160 6 31034324 intron variant G/A snv 9.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs9262631
rs9262631
HCG22
2 0.925 0.160 6 31056824 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs9263688
rs9263688
PSORS1C1
2 0.925 0.160 6 31124190 intron variant A/G snv 5.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs1071816
rs1071816
HLA-B ; MIR6891
1 1.000 0.040 6 31356759 missense variant T/A;C;G snv 0.30; 0.16; 0.34; 2.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs111618861
rs111618861 		1 1.000 0.040 8 56131824 regulatory region variant AAA/-;A;AA;AAAA;AAAAA delins 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs114291795
rs114291795
MICA
2 0.925 0.040 6 31409863 intron variant C/G snv 3.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs1811197
rs1811197 		1 1.000 0.040 6 31359883 upstream gene variant G/A snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs185386680
rs185386680 		2 0.925 0.040 6 31207153 downstream gene variant A/G snv 1.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs199564443
rs199564443
FOXF2 ; LOC105374880
1 1.000 0.040 6 1388744 upstream gene variant TTTT/- delins 1.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs652888
rs652888
CYP21A2 ; EHMT2 ; EHMT2-AS1 ; LOC107986588
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.700 1.000 1 2016 2016