Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs1202430946
IGHMBP2
0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 17
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs132630297
PHF6
0.925 0.280 X 134425256 stop gained C/A;T snv 6
rs751569508
NCOR1
1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 5
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins 4
rs1557179325
FLNA
0.925 0.080 X 154366562 splice region variant C/T snv 4
rs1555178899
WNT10B ; WNT1
0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins 4