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: rs1251778848
rs1251778848
11 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
dbSNP: rs587779349
rs587779349
8 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
dbSNP: rs786205678
rs786205678
2 0.925 0.080 17 40354320 missense variant C/T snv 0.010 1.000 1 2019 2019