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: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1131454
rs1131454
3 0.882 0.040 12 112911065 missense variant G/A;C snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs1382022101
rs1382022101
1 1.000 0.040 9 99828794 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1732778
rs1732778
5 0.882 0.080 12 113019120 upstream gene variant G/A snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs179010
rs179010
3 0.882 0.200 X 12884766 intron variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs2072136
rs2072136
6 0.851 0.120 12 112961114 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2285932
rs2285932
5 0.851 0.120 12 112949145 synonymous variant T/C snv 0.76 0.78 0.010 1.000 1 2016 2016
dbSNP: rs2287886
rs2287886
9 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 0.010 1.000 1 2016 2016
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs5741880
rs5741880
1 1.000 0.040 X 12869297 intron variant G/T snv 0.20 0.010 1.000 1 2017 2017