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: rs121434376
rs121434376
2 1.000 0.080 9 132327511 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 4 2004 2009
dbSNP: rs1554820931
rs1554820931
1 9 132328198 frameshift variant -/T delins 0.700 1.000 4 2004 2009
dbSNP: rs1554822175
rs1554822175
1 9 132331387 frameshift variant A/- delins 0.700 1.000 4 2004 2009
dbSNP: rs587776537
rs587776537
2 1.000 0.080 9 132346304 inframe deletion AGA/- delins 0.700 1.000 4 2004 2009