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: rs1057519439
rs1057519439
DNAH7
1.000 0.120 2 195787135 missense variant A/G snv
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.700 0
dbSNP: rs1057519439
rs1057519439
DNAH7
1.000 0.120 2 195787135 missense variant A/G snv
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		0.700 0
dbSNP: rs1057519439
rs1057519439
DNAH7
1.000 0.120 2 195787135 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057519439
rs1057519439
DNAH7
1.000 0.120 2 195787135 missense variant A/G snv
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		0.700 0
dbSNP: rs1057519439
rs1057519439
DNAH7
1.000 0.120 2 195787135 missense variant A/G snv
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0