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: rs1555729045
rs1555729045
1 19 35721772 stop gained C/T snv 0.700 1.000 9 1999 2017
dbSNP: rs1555732987
rs1555732987
1 19 35732782 frameshift variant -/GCACGCCTCCTTCGGGGCCAGG delins 0.700 1.000 9 1999 2017
dbSNP: rs1555734923
rs1555734923
1 19 35738078 stop gained C/T snv 0.700 1.000 9 1999 2017