Disease: Dysarthria
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv 6
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs141659620
SPG7
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 5
rs72547551
SPG7
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 5
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 5
rs752989523
SPG7
0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06 5
rs879253797
SPG7
0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05 5
rs781934508
SURF1
1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 4
rs1057518936
PNPLA6
0.925 0.120 19 7541025 missense variant C/G snv 3
rs374434303
PNPLA6
0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 3