rs201553266, NEB

N. diseases: 4
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 12 1988 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 12 1988 2017
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
265 0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 4 2014 2016
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 1 2016 2016