Disease: Overgrowth
Source: INFERRED ×
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
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 10
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 6