Source: ALL
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: rs116840811
rs116840811
RPS17
2 0.925 0.080 15 82540427 start lost A/C snv 0.700 0
dbSNP: rs116840812
rs116840812
RPS17
2 0.925 0.080 15 82538939 frameshift variant CT/- delins 0.700 0
dbSNP: rs6991
rs6991
RPS17
1 1.000 0.080 15 82538982 stop gained A/C;G snv 0.700 0