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: rs1554231814
rs1554231814
1 6 157184262 frameshift variant C/- del 0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424
2 1.000 6 157196295 stop gained T/A snv 0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054
3 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017
dbSNP: rs797045282
rs797045282
2 1.000 0.280 6 157206545 stop gained C/T snv 0.700 1.000 20 1984 2017
dbSNP: rs797044859
rs797044859
1 6 157200765 frameshift variant AT/- del 0.700 1.000 1 2015 2015