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: rs199473693
rs199473693
3 0.882 0.160 1 150553750 frameshift variant AGGCCTCTGGCACAGAGCCC/- delins 0.700 0
dbSNP: rs747160538
rs747160538
1 1.000 0.160 1 150558030 frameshift variant G/-;GG delins 4.9E-05 0.700 0
dbSNP: rs794726688
rs794726688
2 0.925 0.160 1 150553816 frameshift variant CGTGCATCCCC/- delins 0.700 0