Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2009 2017
dbSNP: rs587777162
rs587777162
0.925 0.040 20 63495972 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2009 2017
dbSNP: rs786205866
rs786205866
0.807 0.160 20 63495062 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2009 2017