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: rs1057519404
rs1057519404
2 1.000 0.080 X 154030716 frameshift variant -/G delins 0.700 0
dbSNP: rs1557136818
rs1557136818
4 0.925 0.120 X 154031259 missense variant C/T snv 0.700 0
dbSNP: rs267608571
rs267608571
2 1.000 0.080 X 154030686 frameshift variant ACGGGGGC/- delins 0.700 0
dbSNP: rs267608597
rs267608597
4 0.882 0.080 X 154030665 stop gained GG/TA mnv 0.700 0
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
dbSNP: rs61751362
rs61751362
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.700 0
dbSNP: rs61751444
rs61751444
5 0.882 0.080 X 154030903 missense variant G/A snv 0.700 0