Disease: Muscle hypotonia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 10
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs766413410
AGK
0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05 4
rs778127154
ALDH5A1
1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 4
rs786205208
NEXMIF
0.925 X 74742675 stop gained G/A snv 4
rs869025411
FBN1
0.925 0.160 15 48432911 missense variant A/G snv 4
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv 3
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv 3
rs1556235119
UBE2A
1.000 X 119574712 start lost A/G snv 3
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs730882175
KCNH1
1.000 0.120 1 210804143 missense variant C/T snv 3
rs762904815
BRPF1
1.000 3 9744394 frameshift variant C/-;CC;CCC delins 3
rs777096695
AGK
1.000 0.080 7 141611288 splice donor variant G/A;T snv 4.1E-06 3