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: rs1554770453
rs1554770453
1 1.000 0.120 9 128633773 frameshift variant AGGTCCTCAGCTTCCC/- delins 0.700 0
dbSNP: rs1554771175
rs1554771175
1 1.000 0.120 9 128635138 missense variant A/G snv 0.700 0
dbSNP: rs555811074
rs555811074
2 0.925 0.120 9 128636919 missense variant G/A snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs751323441
rs751323441
1 1.000 0.120 9 128633875 stop gained G/A snv 8.0E-06 0.700 0