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: rs2540051
rs2540051
1 2 200706420 splice donor variant G/A snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs2348114
rs2348114
1 2 200717470 non coding transcript exon variant T/C snv 0.82 0.700 1.000 1 2012 2012
dbSNP: rs7563911
rs7563911
1 2 200711561 non coding transcript exon variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs7589014
rs7589014
1 2 200716231 intron variant C/T snv 0.11 0.700 1.000 1 2012 2012