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: 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: rs11107531
rs11107531
CEP83
2 12 94407545 intron variant C/T snv 0.26 0.700 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: 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: 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: rs12620464
rs12620464
RFX8
2 2 101413184 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs12913657
rs12913657
SPPL2A
2 15 50708771 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs151006058
rs151006058
CYP19A1 ; MIR4713HG
2 15 51223259 intron variant TGAATGAA/-;TGAA;TGAATGAATGAA;TGAATGAATGAATGAA;TGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAATGAA delins 0.700 1.000 1 2019 2019
dbSNP: rs16832889
rs16832889 		2 3 182133496 intron variant A/C snv 1.4E-02 0.800 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: 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: 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: rs2411984
rs2411984
LOC102724596
3 17 49368389 intron variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs2414095
rs2414095
CYP19A1 ; MIR4713HG
4 15 51232095 intron variant A/G snv 0.69 0.700 1.000 1 2013 2013
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: rs35198051
rs35198051
SHANK2
3 11 71134158 intron variant G/A snv 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: rs3779195
rs3779195
BAIAP2L1
3 7 98364050 intron variant T/A snv 0.16 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: rs4761470
rs4761470
PLXNC1 ; CEP83
2 12 94289428 intron variant G/A snv 0.16 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: rs575315089
rs575315089
PLXNC1 ; CEP83
2 12 94289428 intron variant -/T delins 2.2E-03 0.700 1.000 1 2013 2013
dbSNP: rs597800
rs597800
EHD3
2 2 31251376 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6077414
rs6077414
PLCB1
2 20 8723905 intron variant T/A;C snv 0.800 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