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: rs1127568
rs1127568
1 1.000 0.080 2 24823221 synonymous variant T/C;G snv 0.69; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1968482
rs1968482
2 0.925 0.120 2 24863989 intron variant T/C snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs2033655
rs2033655
1 1.000 0.080 2 24878223 intron variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs753529
rs753529
1 1.000 0.080 2 24831392 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs7604576
rs7604576
1 1.000 0.080 2 24824539 splice region variant A/G snv 0.55 0.48 0.010 1.000 1 2010 2010