Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934874
TP53
0.695 0.480 17 7675161 missense variant G/A;C;T snv 21
rs1555913337
BCOR
1.000 0.040 X 40054273 frameshift variant TAGAAGTCCCAAGTGC/- del 1
rs1555919960
BCOR
1.000 0.040 X 40074947 frameshift variant -/GT ins 1
rs780712297
BCOR
1.000 0.040 X 40062856 stop gained C/A;T snv 1.6E-05 1