rs199476153, TPM2

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.
ARTHROGRYPOSIS, DISTAL, TYPE 1
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
10 0.882 0.120 9 35685509 inframe deletion CTC/- delins 0.700 0
CAP MYOPATHY 2
CUI: C3807907
Disease: CAP MYOPATHY 2
3 0.882 0.120 9 35685509 inframe deletion CTC/- delins 0.700 0
Nemaline myopathy 4
CUI: C1836447
Disease: Nemaline myopathy 4
9 0.882 0.120 9 35685509 inframe deletion CTC/- delins 0.700 0