Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 11
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9