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: rs12913657
rs12913657
SPPL2A
2 15 50708771 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs12978500
rs12978500
C2CD4C
3 19 406934 3 prime UTR variant C/A snv 0.67 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: rs1431891
rs1431891
LOC101927066
2 8 97270488 downstream gene variant A/G snv 0.18 0.700 1.000 1 2013 2013
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: rs1573036
rs1573036 		3 X 110576840 intergenic variant C/T snv 0.42 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: rs1641537
rs1641537 		3 17 7642403 upstream gene variant T/C snv 0.75 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: 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: rs1835743
rs1835743
LOC101927066
2 8 97270415 downstream gene variant T/C 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: rs2053480
rs2053480
LOC101927066
2 8 97266723 intergenic variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs2053481
rs2053481
LOC101927066
2 8 97266695 intergenic variant C/T snv 0.18 0.700 1.000 1 2013 2013
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: rs2439700
rs2439700
LOC101927066
2 8 97264940 intergenic variant G/A snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2439702
rs2439702
LOC101927066
2 8 97260419 regulatory region variant C/T snv 0.16 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: rs2451113
rs2451113
LOC101927066
2 8 97261220 regulatory region variant G/A snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs2451114
rs2451114
LOC101927066
2 8 97261534 regulatory region variant G/A snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2567768
rs2567768
LOC101927066
2 8 97290923 intergenic variant G/A snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs2567769
rs2567769
LOC101927066
2 8 97285620 intergenic variant G/A snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs2567773
rs2567773
LOC101927066
2 8 97266954 intergenic variant G/A snv 0.15 0.700 1.000 1 2013 2013