Disease: Overgrowth
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 5
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553283037
HNRNPU
1.000 1 244860382 missense variant T/C snv 2
rs1553549717
SCN1A ; SCN1A-AS1
1.000 2 166051871 frameshift variant C/- delins 2
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1553794464
ZBTB20-AS1 ; ZBTB20
1.000 3 114350821 frameshift variant -/C delins 2
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv 3
rs1554499814
EZH2
1.000 7 148829806 missense variant C/G snv 2
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv 3
rs1554898088
PTEN
1.000 10 87933066 frameshift variant CC/-;C delins 2
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv 3
rs1555100954
SHANK2
1.000 11 71118963 stop gained G/A snv 2
rs1555179320
LOC105369689 ; ABCC9
0.925 0.040 12 21817283 missense variant C/T snv 4
rs1555186842
KMT2D
1.000 12 49030285 frameshift variant -/GTGCCCTT delins 2
rs1555244216
MED13L
1.000 12 115987290 splice acceptor variant T/C snv 2
rs1555440555
CHD2
1.000 15 92953386 missense variant T/C snv 2
rs1555565243
RAI1
1.000 17 17794617 frameshift variant CT/- delins 3
rs1555850868
KCNQ2
1.000 20 63407149 frameshift variant G/- delins 2
rs1555891562
GNAS
1.000 20 58909707 missense variant G/A snv 3
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1556039406
NHS
1.000 X 17727350 frameshift variant C/- delins 2
rs1556220623
CUL4B
1.000 X 120547191 stop gained G/A snv 2