Disease: Muscle hypotonia
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 7
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 16
rs772037717
FBXL4
0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 8
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs797044938
KCNQ2
20 63442529 missense variant C/A;G snv 2
rs1114167301
GRM7
0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 6
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs121907978
HEXA
0.925 0.160 15 72346296 missense variant C/G;T snv 7
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs1057519465
HEXA
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 7
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv 5
rs1057519468
HEXA
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 6
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1114167300
GRM7
0.925 0.040 3 7578878 missense variant C/T snv 6
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs758432471
GNB1
0.925 1 1806513 missense variant C/T snv 7.0E-06 3