Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27