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: rs10501858
rs10501858 		2 11 126160720 non coding transcript exon variant G/A snv 7.5E-02 0.800 1.000 1 2013 2013
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: 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: rs12913657
rs12913657
SPPL2A
2 15 50708771 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
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: rs16832889
rs16832889 		2 3 182133496 intron variant A/C snv 1.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs16906958
rs16906958
LOC105375916
2 8 79608410 upstream gene variant G/A snv 6.0E-02 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: rs1835743
rs1835743
LOC101927066
2 8 97270415 downstream gene variant T/C snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs1864729
rs1864729
LOC101927066
2 8 97269961 downstream gene variant G/A snv 0.18 0.800 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: 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: 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