Disease: Microcephaly (physical finding)
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9