rs769345284, NEB

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.
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05 0.700 1.000 2 2008 2014
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
265 0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05 0.700 1.000 2 2014 2016
Hydrops Fetalis, Non-Immune
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
22 0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05 0.700 1.000 1 2015 2015