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: rs13306026
rs13306026
PTGIS
1 1.000 0.040 20 49511026 splice donor variant A/G snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs13333226
rs13333226
UMOD
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.700 0
dbSNP: rs10046
rs10046
CYP19A1 ; MIR4713HG
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 1.000 1 2008 2008
dbSNP: rs10199956
rs10199956
RAMP1
1 1.000 0.040 2 237907946 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1021737
rs1021737
CTH
2 0.925 0.120 1 70439117 missense variant G/T snv 0.28 0.24 0.010 < 0.001 1 2008 2008
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1047047
rs1047047
GUCA2B
1 1.000 0.040 1 42153468 synonymous variant A/C;G;T snv 6.4E-05; 0.21; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1047303
rs1047303
HSD3B1
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs1048829
rs1048829
BMPR2
4 0.925 0.080 2 202565733 3 prime UTR variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1065297
rs1065297
CXCL12
3 0.925 0.040 10 44370528 3 prime UTR variant A/G snv 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1065852
rs1065852
CYP2D6 ; NDUFA6-DT ; LOC112268294
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2015 2015
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs10803414
rs10803414
CLCNKB
2 1.000 0.040 1 16054087 intron variant C/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1093538
rs1093538
FAM189A1
2 1.000 0.040 15 29326124 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2008 2008
dbSNP: rs11169571
rs11169571
ATF1
4 0.851 0.200 12 50819982 3 prime UTR variant T/C snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs11221497
rs11221497
KCNJ5
3 0.882 0.120 11 128890715 upstream gene variant G/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11231825
rs11231825
SLC22A12
5 0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51 0.010 1.000 1 2012 2012
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 2010 2010
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2014 2014
dbSNP: rs11542844
rs11542844
SCNN1A ; LOC107984500
1 1.000 0.040 12 6355415 missense variant C/T snv 7.9E-02 0.17 0.010 1.000 1 2008 2008
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.010 1.000 1 2015 2015