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: rs104894478
rs104894478
3 0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06 0.700 1.000 2 2004 2009
dbSNP: rs1060499595
rs1060499595
2 0.925 0.160 14 60648730 stop gained T/A snv 0.700 0
dbSNP: rs797044960
rs797044960
3 0.925 0.200 14 60648817 missense variant C/T snv 0.700 0
dbSNP: rs80356460
rs80356460
1 1.000 0.120 14 60648791 inframe deletion CCT/- delins 0.700 0