Disease: Overgrowth
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 4
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 5
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5
rs1555179320
LOC105369689 ; ABCC9
0.925 0.040 12 21817283 missense variant C/T snv 4
rs1557100594
AVPR2
0.925 0.080 X 153905887 inframe deletion TAC/- delins 3
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs786205208
NEXMIF
0.925 X 74742675 stop gained G/A snv 4
rs797045865
PAFAH1B1
0.925 0.080 17 2674088 frameshift variant GA/- delins 3
rs869025411
FBN1
0.925 0.160 15 48432911 missense variant A/G snv 4
rs886041382
WDR45
0.925 0.080 X 49078077 stop gained G/A snv 3
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
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