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: 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: 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: rs184597564
rs184597564
ADGRL2
1 1.000 0.040 1 81770721 intron variant C/A snv 1.8E-02 0.700 1.000 1 2017 2017
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: rs200629715
rs200629715
LOC105370103
1 1.000 0.040 13 20561201 downstream gene variant ACAAAAAA/- delins 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs202233001
rs202233001 		1 1.000 0.040 20 21754716 upstream gene variant ACA/- del 3.2E-02 0.700 1.000 1 2018 2018
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: 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: 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: rs572589
rs572589
LOC107986961
1 1.000 0.040 8 101473534 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs622871
rs622871
C2 ; CYP21A2
2 1.000 0.040 6 31910718 intron variant A/C;G snv 0.700 1.000 1 2018 2018
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
dbSNP: rs73165468
rs73165468
IFT88
1 1.000 0.040 13 20680227 intron variant C/T snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs74461346
rs74461346
LINC01603
1 1.000 0.040 8 69449390 upstream gene variant C/T snv 2.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs74512480
rs74512480
LOC105378911 ; LINC01357
1 1.000 0.040 1 112873635 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs74997117
rs74997117 		1 1.000 0.040 7 155060018 intergenic variant C/T snv 3.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs76801208
rs76801208
GNAS
1 1.000 0.040 20 58898673 non coding transcript exon variant C/T snv 1.5E-02 0.700 1.000 1 2018 2018
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: rs80208670
rs80208670 		1 1.000 0.040 13 83863953 intergenic variant T/C snv 1.3E-02 0.700 1.000 1 2017 2017
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