Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518871
COL5A1
0.925 0.120 9 134798410 frameshift variant C/- delins 10
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv 7