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: 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: rs17042688
rs17042688
LOC730100
2 2 52284656 intron variant G/T snv 8.4E-02 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: rs4902141
rs4902141
LOC105370529
2 14 62501677 intergenic variant T/C snv 2.3E-02 0.800 1.000 1 2013 2013
dbSNP: rs7910927
rs7910927
JMJD1C
3 10 63379150 intron variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs478665
rs478665
JAK1
2 1 65049850 intron variant A/G snv 5.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs35679777
rs35679777
LOC105377842
2 6 67324567 intergenic variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs293428
rs293428 		3 4 68726064 intergenic variant A/G snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs35198051
rs35198051
SHANK2
3 11 71134158 intron variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs9901675
rs9901675
CD68 ; LOC100996842
5 17 7581494 missense variant G/A snv 5.4E-02 5.5E-02 0.700 1.000 1 2012 2012
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: 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: rs1641537
rs1641537 		3 17 7642403 upstream gene variant T/C snv 0.75 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: rs16906958
rs16906958
LOC105375916
2 8 79608410 upstream gene variant G/A snv 6.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs12118390
rs12118390 		2 1 80445429 intergenic variant G/A snv 5.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs440837
rs440837 		3 8 80549739 intergenic variant A/G snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs11688246
rs11688246 		2 2 85478554 intergenic variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs6077414
rs6077414
PLCB1
2 20 8723905 intron variant T/A;C snv 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: rs4761470
rs4761470
PLXNC1 ; CEP83
2 12 94289428 intron variant G/A snv 0.16 0.800 1.000 1 2013 2013
dbSNP: rs575315089
rs575315089
PLXNC1 ; CEP83
2 12 94289428 intron variant -/T delins 2.2E-03 0.700 1.000 1 2013 2013