rs587780564, DYNC1H1

N. diseases: 5
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 0.882 0.080 14 101986017 missense variant C/T snv 0.810 1.000 7 2012 2017
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
7 0.882 0.080 14 101986017 missense variant C/T snv 0.800 1.000 3 2011 2015
Hereditary Motor and Sensory Neuropathies
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
11 0.882 0.080 14 101986017 missense variant C/T snv 0.710 1.000 1 2015 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.080 14 101986017 missense variant C/T snv 0.700 1.000 18 1998 2018
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
20 0.882 0.080 14 101986017 missense variant C/T snv 0.700 0