Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1561002040
LOC107984036 ; RAB33B
1.000 4 139454380 frameshift variant C/- delins 4
rs765795867
COL2A1
12 47978098 missense variant C/A;T snv 2