PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Muscle hypotonia ×
Source: ALL
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: rs1554708787
rs1554708787 		1.000 9 95506567 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1996 2016
dbSNP: rs781768965
rs781768965 		1.000 9 95508175 stop gained C/A;G snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1996 2016