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: rs1217406
rs1217406
1 1.000 0.080 1 113850531 intron variant A/C snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs200931578
rs200931578
1 1.000 0.080 14 106639263 missense variant T/A;C snv 6.9E-03 0.23 0.700 1.000 1 2017 2017
dbSNP: rs201076896
rs201076896
1 1.000 0.080 14 106639254 missense variant T/G snv 1.1E-02 0.27 0.700 1.000 1 2017 2017
dbSNP: rs201691548
rs201691548
1 1.000 0.080 14 106639255 missense variant A/C;G;T snv 5.1E-06; 3.6E-05; 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs202117805
rs202117805
1 1.000 0.080 14 106639291 missense variant G/A;C snv 2.0E-05; 0.14 0.700 1.000 1 2017 2017
dbSNP: rs202166511
rs202166511
1 1.000 0.080 14 106639264 missense variant A/C;G;T snv 1.5E-05; 8.5E-03; 1.0E-05 0.700 1.000 1 2017 2017
dbSNP: rs35514500
rs35514500
1 1.000 0.080 14 59387188 intergenic variant -/T delins 0.010 1.000 1 2015 2015
dbSNP: rs3789609
rs3789609
1 1.000 0.080 1 113855177 intron variant C/T snv 0.21 0.010 1.000 1 2014 2014