Disease: Overgrowth
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1553794464
ZBTB20-AS1 ; ZBTB20
1.000 3 114350821 frameshift variant -/C delins 2
rs1554499814
EZH2
1.000 7 148829806 missense variant C/G snv 2
rs1554898088
PTEN
1.000 10 87933066 frameshift variant CC/-;C delins 2
rs1555100954
SHANK2
1.000 11 71118963 stop gained G/A snv 2
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
rs1555850868
KCNQ2
1.000 20 63407149 frameshift variant G/- delins 2
rs1556039406
NHS
1.000 X 17727350 frameshift variant C/- delins 2
rs1556220623
CUL4B
1.000 X 120547191 stop gained G/A snv 2
rs1556836399
MIR6895 ; KDM5C
1.000 X 53195978 stop gained G/A snv 2
rs34927195
NLGN3
1.000 X 71147958 frameshift variant -/G delins 2
rs774152851
SNORD9 ; CHD8
1.000 14 21394188 frameshift variant G/-;GG delins 2
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv 3
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv 3
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv 3
rs1555565243
RAI1
1.000 17 17794617 frameshift variant CT/- delins 3
rs1555891562
GNAS
1.000 20 58909707 missense variant G/A snv 3
rs1556235119
UBE2A
1.000 X 119574712 start lost A/G snv 3
rs1557100594
AVPR2
0.925 0.080 X 153905887 inframe deletion TAC/- delins 3
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs761532715
PKDCC
1.000 2 42053250 stop gained C/A snv 3