Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1557644984
SLC2A1
0.925 0.080 1 42927622 missense variant A/G snv 5
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1560212751
DOCK3
1.000 3 51208772 splice acceptor variant A/G snv 2
rs1560414254
DOCK3
1.000 3 51312486 frameshift variant ACTT/- delins 2
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
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
rs1568507354
RYR1
0.827 0.200 19 38502879 splice acceptor variant G/A snv 6
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs587779766
AHDC1
0.851 0.200 1 27549742 frameshift variant CA/- delins 7
rs587779767
AHDC1
0.851 0.200 1 27549218 frameshift variant G/- delins 7
rs587779768
AHDC1
0.851 0.200 1 27549569 frameshift variant G/- delins 7
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 17
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv 6
rs758432471
GNB1
0.925 1 1806513 missense variant C/T snv 7.0E-06 4
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 5
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15