Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518776
rs1057518776
0.925 0.080 14 101986027 missense variant T/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1057519465
rs1057519465
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1057521223
rs1057521223
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1085307993
rs1085307993
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1114167292
rs1114167292
0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1114167295
rs1114167295
0.827 0.160 X 54812169 frameshift variant C/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1114167296
rs1114167296
0.827 0.160 X 34656995 missense variant C/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1114167298
rs1114167298
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1114167300
rs1114167300
0.925 0.040 3 7578878 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1114167301
rs1114167301
0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs113460156
rs113460156
19 38473772 splice donor variant G/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1135402761
rs1135402761
0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs113871094
rs113871094
0.683 0.320 15 48465820 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1163944538
rs1163944538
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs121907978
rs121907978
0.925 0.160 15 72346296 missense variant C/G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1352010373
rs1352010373
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs137852695
rs137852695
0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs137852832
rs137852832
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs137853105
rs137853105
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs139751598
rs139751598
0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs140119177
rs140119177
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs141760116
rs141760116
0.925 0.080 5 70951939 splice acceptor variant A/C;G;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs143657539
rs143657539
1 40092054 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1448259271
rs1448259271
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1488635637
rs1488635637
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0