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: rs1461567
rs1461567
1 1.000 0.120 12 43770886 intron variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs312462
rs312462
1 1.000 0.120 17 7010333 synonymous variant G/A snv 0.11 8.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs4251513
rs4251513
1 1.000 0.120 12 43780401 intron variant G/C snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs434473
rs434473
2 0.925 0.160 17 7001615 missense variant A/C;G snv 4.0E-06; 0.38 0.010 1.000 1 2014 2014
dbSNP: rs6502997
rs6502997
1 1.000 0.120 17 6984439 intron variant A/C snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs6502998
rs6502998
1 1.000 0.120 17 6986238 intron variant G/A snv 0.68 0.010 1.000 1 2014 2014