Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10