Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1560212751
DOCK3
1.000 3 51208772 splice acceptor variant A/G snv 2
rs1560414254
DOCK3
1.000 3 51312486 frameshift variant ACTT/- delins 2
rs1057518776
DYNC1H1
0.925 0.080 14 101986027 missense variant T/A snv 4
rs531163149
MTSS2
1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06 4
rs758432471
GNB1
0.925 1 1806513 missense variant C/T snv 7.0E-06 4
rs782304760
KDM2B
0.925 0.080 12 121442391 missense variant C/T snv 2.8E-05 7.0E-06 4
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 5
rs1554863016
KIF11
0.882 0.240 10 92648211 splice acceptor variant G/A snv 5
rs1557644984
SLC2A1
0.925 0.080 1 42927622 missense variant A/G snv 5
rs1567498374
KARS1
0.882 0.160 16 75630493 frameshift variant G/-;GG delins 5
rs1568303086
TCF4
0.882 0.320 18 55228877 missense variant C/A snv 5
rs768663992
CLUAP1
0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05 5
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 5
rs1114167292
RUBCN
0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 6
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del 6
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6
rs1114167300
GRM7
0.925 0.040 3 7578878 missense variant C/T snv 6
rs1114167301
GRM7
0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 6
rs1568507354
RYR1
0.827 0.200 19 38502879 splice acceptor variant G/A snv 6
rs374319146
TBCK
0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 6
rs61751035
RPS6KC1
0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 6
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv 6
rs767982852
RUBCN
0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05 6
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 6
rs869312826
GNB1
0.882 0.080 1 1787378 missense variant C/T snv 6