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: rs121909374
rs121909374
7 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 0
dbSNP: rs397516059
rs397516059
5 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 0
dbSNP: rs730880603
rs730880603
2 0.925 0.080 11 47332115 missense variant G/T snv 0.700 0