Disease: Muscle hypotonia
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553255354
ACTA1
1.000 1 229431843 missense variant C/G snv 2
rs142684762
ADGRG1
1.000 16 57659478 missense variant A/G snv 3
rs146278035
ADGRG1
0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 4
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs1555528357
ANKRD11
1.000 16 89282837 frameshift variant ATTT/- delins 2
rs1555528558
ANKRD11
1.000 16 89283207 frameshift variant -/T delins 3
rs1555529297
ANKRD11
1.000 16 89284412 stop gained C/T snv 2
rs878855327
ANKRD11
0.925 0.280 16 89279750 frameshift variant G/-;GG delins 5
rs886039477
ANKRD11
0.925 0.280 16 89282771 frameshift variant TT/- delins 3
rs1553259463
AP4B1
1.000 1 113901815 stop gained GACAT/- delins 2
rs1554226131
ARID1B
1.000 6 157148899 frameshift variant -/A delins 2
rs1554237658
ARID1B
0.925 0.280 6 157206917 stop gained C/T snv 3
rs1554237848
ARID1B
1.000 6 157207180 stop gained G/A snv 2
rs1554247637
ARID1B
1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins 2
rs1554256703
ARID1B
0.925 0.280 6 156829302 stop gained C/T snv 3
rs758570139
ARID1B
1.000 6 157181016 stop gained C/G;T snv 2.8E-05 2
rs1556055108
ARX
1.000 X 25013073 stop gained C/A snv 2
rs765530357
ASPM
1.000 1 197101666 stop gained GATAT/- delins 4.0E-06 2
rs1555912285
ASXL1
1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins 3
rs1555912897
ASXL1
1.000 20 32436833 frameshift variant -/G delins 2
rs754129466
ASXL1
1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05 2
rs1555742500
ASXL3
0.925 18 33739379 frameshift variant GACA/- delins 3