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: rs748951253
rs748951253
2 0.925 0.200 12 123673712 frameshift variant C/-;CC delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs760034947
rs760034947
2 0.925 0.200 12 123679246 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs915737037
rs915737037
2 0.925 0.200 12 123686922 frameshift variant -/CTCTGCTC delins 2.1E-05 0.700 0