Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1060499740
CINP
14 102348559 stop lost A/C snv 3
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1064796738
KIF11
1.000 0.240 10 92606655 stop gained C/T snv 5
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1558519731
BCL11A
0.925 2 60546204 missense variant C/G snv 4
rs1564617866
POLR3A
0.925 0.200 10 78000983 missense variant T/G snv 7
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5
rs370270828
BRF1
0.882 0.160 14 105241292 missense variant G/A snv 8.0E-06 2.8E-05 7
rs373957300
BRF1
0.882 0.160 14 105228832 missense variant G/A snv 1.6E-05 2.8E-05 7
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs531163149
MTSS2
1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06 4
rs571640983
MFSD2A
0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06 4
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06 7