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: rs1114167776
rs1114167776
2 1.000 0.120 2 47791020 frameshift variant -/T delins 0.700 0
dbSNP: rs1558656674
rs1558656674
1 1.000 0.120 2 47796010 inframe deletion AATTGGCAG/- delins 0.700 0
dbSNP: rs1558661873
rs1558661873
1 1.000 0.120 2 47799474 frameshift variant AAAGATGGCACATATATCCAAGTATGATA/- del 0.700 0
dbSNP: rs1558664251
rs1558664251
1 1.000 0.120 2 47800084 frameshift variant -/C ins 0.700 0
dbSNP: rs1558666905
rs1558666905
1 1.000 0.120 2 47800819 stop gained G/T snv 0.700 0