rs104894127, TPM2

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.
ARTHROGRYPOSIS, DISTAL, TYPE 1
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
10 0.925 0.080 9 35685750 missense variant G/C snv 0.700 1.000 2 2003 2014
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.925 0.080 9 35685750 missense variant G/C snv 0.010 1.000 1 2017 2017
Congenital myopathy (disorder)
CUI: C0270960
Disease: Congenital myopathy (disorder)
10 0.925 0.080 9 35685750 missense variant G/C snv 0.010 1.000 1 2015 2015
Contracture
CUI: C0009917
Disease: Contracture
12 0.925 0.080 9 35685750 missense variant G/C snv 0.010 1.000 1 2017 2017