Disease: Hyperextensible skin
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1443187318
AEBP1
0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 14
rs1057518871
COL5A1
0.925 0.120 9 134798410 frameshift variant C/- delins 10