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: rs112056543
rs112056543
1 12 8698552 intron variant C/A snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs2377585
rs2377585
1 12 8779605 non coding transcript exon variant T/G snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs3078352
rs3078352
1 12 8779893 non coding transcript exon variant GTAT/-;GTATGTAT delins 0.700 1.000 1 2016 2016
dbSNP: rs78241246
rs78241246
1 12 8698522 intron variant C/T snv 0.25 0.700 1.000 1 2016 2016