Disease: Overgrowth
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 7