rs1217391623, SPG7

N. diseases: 11
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 delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
Dysdiadochokinesis
CUI: C0234979
Disease: Dysdiadochokinesis
7 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
17 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
15 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
38 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0