rs80358249, TNNT1

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.
NEMALINE MYOPATHY 5
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
4 0.925 0.080 19 55137176 stop gained C/A snv 4.0E-06 1.6E-04 0.710 1.000 5 2000 2018
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.080 19 55137176 stop gained C/A snv 4.0E-06 1.6E-04 0.700 0