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: rs1380193482
rs1380193482
1 1.000 10 119158008 splice donor variant C/A;T snv 0.700 0
dbSNP: rs1554886159
rs1554886159
1 1.000 10 119147853 frameshift variant -/T delins 0.700 0
dbSNP: rs367932369
rs367932369
1 1.000 10 119157870 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs398124642
rs398124642
1 1.000 10 119162359 frameshift variant G/- delins 0.700 0