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: rs587779766
rs587779766
0.851 0.200 1 27549742 frameshift variant CA/- delins
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587779767
rs587779767
0.851 0.200 1 27549218 frameshift variant G/- delins
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587779768
rs587779768
0.851 0.200 1 27549569 frameshift variant G/- delins
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014