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: rs575315089
rs575315089
PLXNC1 ; CEP83
2 12 94289428 intron variant -/T delins 2.2E-03 0.700 1.000 1 2013 2013
dbSNP: rs16832889
rs16832889 		2 3 182133496 intron variant A/C snv 1.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs3849221
rs3849221 		3 9 135136831 regulatory region variant A/C snv 0.59 0.700 1.000 1 2012 2012
dbSNP: rs1431891
rs1431891
LOC101927066
2 8 97270488 downstream gene variant A/G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs17496332
rs17496332 		3 1 107003753 intergenic variant A/G snv 0.26 0.700 1.000 1 2012 2012
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: rs2414095
rs2414095
CYP19A1 ; MIR4713HG
4 15 51232095 intron variant A/G snv 0.69 0.700 1.000 1 2013 2013
dbSNP: rs293428
rs293428 		3 4 68726064 intergenic variant A/G snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs440837
rs440837 		3 8 80549739 intergenic variant A/G snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs4699587
rs4699587 		2 4 94694618 intron variant A/G snv 4.1E-02 0.800 1.000 1 2013 2013
dbSNP: rs478665
rs478665
JAK1
2 1 65049850 intron variant A/G snv 5.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs2853318
rs2853318
LOC101927066
2 8 97271281 downstream gene variant A/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs200932358
rs200932358
LOC102724596
2 17 49368390 intron variant AAATAAATAAATAAATAAAT/-;AAAT;AAATAAAT;AAATAAATAAAT;AAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAATAAAT delins 0.13 0.700 1.000 1 2012 2012
dbSNP: rs371768722
rs371768722
LOC102724596
2 17 49368390 intron variant AAATAAATAAATAAATAAAT/-;AAAT;AAATAAAT;AAATAAATAAAT;AAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAATAAAT delins 0.700 1.000 1 2012 2012
dbSNP: rs117585797
rs117585797
ANO2 ; LOC105369621
3 12 5902324 intron variant C/A snv 1.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs12978500
rs12978500
C2CD4C
3 19 406934 3 prime UTR variant C/A snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs36019094
rs36019094 		3 5 40237272 upstream gene variant C/A snv 0.700 1.000 1 2012 2012
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: 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: rs10514317
rs10514317 		3 5 89813933 intergenic variant C/A;T snv 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: 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: rs1348184
rs1348184
LOC101927066
2 8 97264684 intergenic variant C/G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2853320
rs2853320
LOC101927066
2 8 97271295 downstream gene variant C/G snv 0.18 0.700 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