Disease: Microcephaly (physical finding)
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
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
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs797044523
LOC105372797 ; DYRK1A
0.882 21 37480756 frameshift variant -/A delins 9
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 6