Disease: Muscle hypotonia
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518496
SATB2
1.000 2 199349006 stop gained G/A snv 2
rs1057521070
TCF4
0.925 0.200 18 55228999 missense variant C/T snv 2
rs1167512470
SLC52A3
1.000 20 761123 missense variant A/G snv 9.2E-06 2
rs1241142887
DLG3
1.000 X 70445552 stop gained T/A;C snv 8.3E-06 9.4E-06 2
rs1248355799
RYR1
1.000 19 38485770 frameshift variant ACTGCGCG/- del 1.4E-05 2
rs1366421988
CLN8
1.000 8 1771146 missense variant G/A;T snv 4.0E-06 2
rs1382444181
METTL23
1.000 17 76733070 frameshift variant G/- delins 8.3E-06 7.0E-06 2
rs1426926688
LAMC3
1.000 9 131038920 frameshift variant AGCACAG/- del 8.0E-06 1.4E-05 2
rs1553238271
CAMTA1
1.000 1 7661827 stop gained C/T snv 2
rs1553255354
ACTA1
1.000 1 229431843 missense variant C/G snv 2
rs1553259463
AP4B1
1.000 1 113901815 stop gained GACAT/- delins 2
rs1553544102
SATB2
1.000 2 199308769 frameshift variant TC/- delins 2
rs1553583712
SCN2A
1.000 2 165354339 frameshift variant GA/- del 2
rs1553629086
HECW2
1.000 2 196201282 missense variant C/T snv 2
rs1553630221
TGFBR2
1.000 3 30672234 missense variant G/C snv 2
rs1553666033
NGLY1 ; OXSM
1.000 3 25783352 frameshift variant C/- del 2
rs1553690452
SLC6A1
1.000 3 11028845 stop gained C/T snv 2
rs1553693712
BRPF1
1.000 3 9734167 frameshift variant TT/- delins 2
rs1553704696
TRIP12
1.000 2 229859313 frameshift variant T/- delins 2
rs1553810244
TBL1XR1
1.000 3 177038369 missense variant T/A snv 2
rs1553961516
ZEB2
1.000 2 144398578 stop gained G/T snv 2
rs1554120939
SYNGAP1
1.000 6 33435269 frameshift variant -/CACA delins 2
rs1554226131
ARID1B
1.000 6 157148899 frameshift variant -/A delins 2
rs1554237848
ARID1B
1.000 6 157207180 stop gained G/A snv 2
rs1554247637
ARID1B
1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins 2