Disease: Low set ears
Source: CLINVAR ×
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
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 24
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 14
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5