Disease: Intrauterine retardation
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
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
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
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs1555493029
COG7
0.851 0.240 16 23406263 splice acceptor variant C/A snv 10
rs1555497604
COG7
0.851 0.240 16 23452993 start lost A/G snv 10