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: rs1555321367
rs1555321367
2 1.000 14 28768138 stop gained A/T snv 0.700 1.000 15 1989 2017
dbSNP: rs1555321405
rs1555321405
2 1.000 14 28768359 frameshift variant -/G delins 0.700 1.000 15 1989 2017
dbSNP: rs796052462
rs796052462
2 1.000 14 28767840 missense variant C/A;G snv 0.700 1.000 15 1989 2017