rs375817528, CAPN1

N. diseases: 25
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.
Ankle clonus
CUI: C0238651
Disease: Ankle clonus
5 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Brisk reflexes
CUI: C2673700
Disease: Brisk reflexes
7 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Cervical spondylosis
CUI: C1384641
Disease: Cervical spondylosis
1 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Distal lower limb amyotrophy
CUI: C1836451
Disease: Distal lower limb amyotrophy
8 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
12 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Gait, Drop Foot
CUI: C0427149
Disease: Gait, Drop Foot
5 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Horizontal Nystagmus
CUI: C0271385
Disease: Horizontal Nystagmus
11 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Impaired distal vibration sensation
CUI: C1853767
Disease: Impaired distal vibration sensation
1 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Limb dysmetria
CUI: C1854489
Disease: Limb dysmetria
6 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Paresthesia
CUI: C0030554
Disease: Paresthesia
8 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
11 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Pyramidal sign
CUI: C0234132
Disease: Pyramidal sign
10 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
5 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Spinal stenosis of lumbar region
CUI: C0158288
Disease: Spinal stenosis of lumbar region
2 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Spondylolisthesis at L5-S1
CUI: C3275799
Disease: Spondylolisthesis at L5-S1
3 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Upper motor neuron dysfunction
CUI: C1839042
Disease: Upper motor neuron dysfunction
1 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
Weakness due to upper motor neuron dysfunction
1 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0