Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 17
rs1555381324
AMN
0.925 0.080 14 102928779 frameshift variant -/CT delins 2
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 1