Disease: Overgrowth
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs1557100594
AVPR2
0.925 0.080 X 153905887 inframe deletion TAC/- delins 3
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs762904815
BRPF1
1.000 3 9744394 frameshift variant C/-;CC;CCC delins 3
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs1555440555
CHD2
1.000 15 92953386 missense variant T/C snv 2
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1556220623
CUL4B
1.000 X 120547191 stop gained G/A snv 2
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv 3
rs1554499814
EZH2
1.000 7 148829806 missense variant C/G snv 2
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs869025411
FBN1
0.925 0.160 15 48432911 missense variant A/G snv 4
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 5
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs1555891562
GNAS
1.000 20 58909707 missense variant G/A snv 3
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1553283037
HNRNPU
1.000 1 244860382 missense variant T/C snv 2
rs1555850868
KCNQ2
1.000 20 63407149 frameshift variant G/- delins 2
rs781978013
KMT2A
1.000 11 118472681 stop gained G/A;T snv 4.0E-06 3
rs1555186842
KMT2D
1.000 12 49030285 frameshift variant -/GTGCCCTT delins 2
rs1555179320
LOC105369689 ; ABCC9
0.925 0.040 12 21817283 missense variant C/T snv 4
rs1555244216
MED13L
1.000 12 115987290 splice acceptor variant T/C snv 2
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 4