Disease: Microcephaly (physical finding)
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064795945
ASPM
1.000 0.120 1 197102332 frameshift variant AAGT/- delins 5
rs199422173
ASPM
0.827 0.120 1 197101468 frameshift variant CT/- delins 2.3E-04 1.7E-04 7
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 8
rs1558519731
BCL11A
0.925 2 60546204 missense variant C/G snv 4
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
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06 7
rs606231450
BRF1
0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 7
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs1060499740
CINP
14 102348559 stop lost A/C snv 3
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs724159951
DYRK1A
21 37493101 missense variant T/C snv 6
rs724159953
DYRK1A
1.000 21 37505352 stop gained C/T snv 7
rs724159955
DYRK1A
1.000 21 37512002 missense variant C/A snv 6
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins 6
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins 9
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv 7
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 6
rs724159954
DYRK1A ; LOC105372797
21 37490353 frameshift variant -/A delins 6
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv 9
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins 7
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24