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: rs1554289078
rs1554289078
3 0.925 0.080 7 23140945 splice donor variant G/A snv 0.700 0
dbSNP: rs1554293056
rs1554293056
1 7 23167854 stop gained T/A snv 0.700 0
dbSNP: rs1554293083
rs1554293083
1 7 23167948 frameshift variant C/- delins 0.700 0