rs1057518083, DYNC1H1

N. diseases: 21
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.
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
9 0.851 0.120 14 101986552 missense variant C/T snv 0.800 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
7 0.851 0.120 14 101986552 missense variant C/T snv 0.700 1.000 2 2016 2017
Ankle contracture
CUI: C1837407
Disease: Ankle contracture
3 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
11 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
12 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Distal lower limb amyotrophy
CUI: C1836451
Disease: Distal lower limb amyotrophy
8 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Distal lower limb muscle weakness
CUI: C1836450
Disease: Distal lower limb muscle weakness
11 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
EMG: neuropathic changes
CUI: C4021727
Disease: EMG: neuropathic changes
5 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Gait, Shuffling
CUI: C0231688
Disease: Gait, Shuffling
2 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Knee reflex absent
CUI: C0558844
Disease: Knee reflex absent
2 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Lordosis
CUI: C0024003
Disease: Lordosis
15 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Neurodevelopmental abnormality
CUI: C4022737
Disease: Neurodevelopmental abnormality
19 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Progressive distal muscle weakness
CUI: C1836609
Disease: Progressive distal muscle weakness
4 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Reflex, Ankle, Absent
CUI: C0558845
Disease: Reflex, Ankle, Absent
5 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Skeletal muscle atrophy
CUI: C0541794
Disease: Skeletal muscle atrophy
12 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Tibialis atrophy
CUI: C4023375
Disease: Tibialis atrophy
1 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
Waddling gait
CUI: C0231712
Disease: Waddling gait
8 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0