rs713993043, DYNC1H1

N. diseases: 2
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
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 0.925 0.080 14 101980380 missense variant G/A;T snv 0.710 1.000 1 2015 2015
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
9 0.925 0.080 14 101980380 missense variant G/A;T snv 0.700 0