rs1057519439, DNAH7

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal muscle tone
CUI: C0852413
Disease: Abnormal muscle tone
7 1.000 0.120 2 195787135 missense variant A/G snv 0.700 0
Abnormality of the basal ganglia
CUI: C4520981
Disease: Abnormality of the basal ganglia
3 1.000 0.120 2 195787135 missense variant A/G snv 0.700 0
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 1.000 0.120 2 195787135 missense variant A/G snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 1.000 0.120 2 195787135 missense variant A/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.120 2 195787135 missense variant A/G snv 0.700 0