rs387906738, DYNC1H1

N. diseases: 3
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 101980506 missense variant A/G snv 0.800 1.000 6 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 101980506 missense variant A/G snv 0.800 1.000 3 2011 2015
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.882 0.080 14 101980506 missense variant A/G snv 0.700 1.000 1 2011 2011