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: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2017 2017
dbSNP: rs1132440
rs1132440
1 1.000 0.080 11 1200591 synonymous variant G/C snv 0.58 0.52 0.010 1.000 1 2013 2013
dbSNP: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs909253
rs909253
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.010 1.000 1 2017 2017