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: rs10483727
rs10483727 		4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.100 0.917 12 2011 2019
dbSNP: rs4236601
rs4236601 		4 0.882 0.040 7 116522675 upstream gene variant G/A snv 0.28 0.080 1.000 8 2011 2018
dbSNP: rs4656461
rs4656461 		7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.030 1.000 3 2012 2015
dbSNP: rs1192415
rs1192415 		4 0.925 0.040 1 91611540 TF binding site variant G/A snv 0.81 0.020 1.000 2 2015 2015
dbSNP: rs180040
rs180040 		3 0.882 0.120 15 97027933 intergenic variant T/C snv 0.85 0.020 0.500 2 2012 2015
dbSNP: rs7081455
rs7081455 		4 0.851 0.040 10 20349956 upstream gene variant G/A;T snv 0.020 1.000 2 2014 2017
dbSNP: rs12436579
rs12436579 		1 1.000 0.040 14 60516369 intron variant C/A;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs17588172
rs17588172 		2 0.925 0.040 7 116513961 intergenic variant T/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs3858145
rs3858145 		3 0.882 0.040 10 68252081 regulatory region variant A/G snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs4657473
rs4657473 		1 1.000 0.040 1 165717914 regulatory region variant C/T snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs547984
rs547984 		3 0.882 0.040 1 237933586 intergenic variant A/C snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs693421
rs693421 		1 1.000 0.040 1 237935790 downstream gene variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs7098387
rs7098387 		1 1.000 0.040 10 20334544 regulatory region variant A/C;T snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs747782
rs747782 		4 0.925 0.040 11 47919373 intergenic variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs79721419
rs79721419 		4 0.851 0.160 9 22200957 downstream gene variant G/A snv 7.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs11568658
rs11568658
ABCC4 ; SNORD13G
3 0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs8176693
rs8176693
ABO
9 0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs782006965
rs782006965
ADAMTS10
2 0.925 0.040 19 8589505 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2003 2003
dbSNP: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 < 0.001 1 2003 2003
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1051993
rs1051993
AGER ; PBX2
1 1.000 0.040 6 32185657 3 prime UTR variant C/A snv 5.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs59892895
rs59892895
APBB2
1 1.000 0.040 4 40995241 intron variant T/C snv 6.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015