Disease: Muscle hypotonia
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs121907966
HEXA
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 9
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs772037717
FBXL4
0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 8
rs1057519465
HEXA
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 7
rs121907978
HEXA
0.925 0.160 15 72346296 missense variant C/G;T snv 7
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 7
rs762425351
CRAT
0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 7
rs773446161
HEXA
0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 7
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv 7
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 7
rs1057519463
HEXA
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 6
rs1057519468
HEXA
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 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
rs869320713
LOC107984190 ; ZMYND11
0.851 0.120 10 248370 missense variant G/A snv 6
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv 5
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 5
rs869312826
GNB1
0.882 0.080 1 1787378 missense variant C/T snv 5