Disease: Microcephaly (physical finding)
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 17
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs730882242
DIAPH1
0.807 0.280 5 141573518 stop gained G/A snv 5
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 15
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 16
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25