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: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.700 1.000 1 2012 2012
dbSNP: rs727479
rs727479
CYP19A1 ; MIR4713 ; MIR4713HG
10 0.790 0.240 15 51242350 intron variant C/A;T snv 0.700 1.000 2 2012 2018
dbSNP: rs780093
rs780093
GCKR
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.700 1.000 1 2012 2012
dbSNP: rs1625895
rs1625895
TP53
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.700 1.000 1 2012 2012
dbSNP: rs727428
rs727428 		11 0.882 0.200 17 7634474 downstream gene variant T/C snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs6016142
rs6016142 		3 1.000 0.120 20 39672165 intergenic variant C/T snv 7.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs12591359
rs12591359
CYP19A1 ; MIR4713HG
4 0.925 0.080 15 51247171 intron variant G/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs17601876
rs17601876
CYP19A1 ; MIR4713HG
3 1.000 0.080 15 51261712 intron variant A/G snv 0.58 0.700 1.000 1 2019 2019
dbSNP: rs2445762
rs2445762
CYP19A1
4 1.000 0.080 15 51325511 intron variant T/C snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs727333
rs727333
DSCAM
3 1.000 0.080 21 40331020 intron variant C/A snv 6.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs12150660
rs12150660
SHBG
5 1.000 0.040 17 7618597 intron variant G/T snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs6258
rs6258
SHBG
5 1.000 0.040 17 7631360 missense variant C/A;T snv 5.6E-05; 4.5E-03 0.700 1.000 1 2012 2012
dbSNP: rs10454142
rs10454142 		3 2 48419260 intergenic variant T/C snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs10501858
rs10501858 		2 11 126160720 non coding transcript exon variant G/A snv 7.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs10514317
rs10514317 		3 5 89813933 intergenic variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10515260
rs10515260 		2 5 97740844 downstream gene variant T/C snv 6.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs11107531
rs11107531
CEP83
2 12 94407545 intron variant C/T snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs11688246
rs11688246 		2 2 85478554 intergenic variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs117585797
rs117585797
ANO2 ; LOC105369621
3 12 5902324 intron variant C/A snv 1.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs12118390
rs12118390 		2 1 80445429 intergenic variant G/A snv 5.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs12565140
rs12565140 		2 1 33463157 upstream gene variant T/C snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs12620464
rs12620464
RFX8
2 2 101413184 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs12739262
rs12739262
PPP1R12B
3 1 202422615 splice region variant C/T snv 1.5E-04 7.0E-05 0.700 1.000 1 2012 2012
dbSNP: rs12751297
rs12751297 		3 1 242792261 intergenic variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs12913657
rs12913657
SPPL2A
2 15 50708771 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019