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: rs121909626
rs121909626
4 0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05 0.700 0
dbSNP: rs200519781
rs200519781
2 1.000 0.080 1 152311565 frameshift variant T/- del 2.9E-04 0.700 0
dbSNP: rs558269137
rs558269137
8 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 0.700 0
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0