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: rs138119149
rs138119149
11 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
dbSNP: rs587777589
rs587777589
7 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
dbSNP: rs761964407
rs761964407
4 1.000 6 158114826 frameshift variant -/ATAG delins 1.5E-04 1.5E-04 0.700 0