rs121918073, TTR

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.
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
68 0.882 0.160 18 31598622 missense variant C/A snv 0.800 1.000 22 1986 2014
Danish type familial amyloid cardiomyopathy
CUI: C0342613
Disease: Danish type familial amyloid cardiomyopathy
2 0.882 0.160 18 31598622 missense variant C/A snv 0.020 1.000 2 1992 1993
FANCONI ANEMIA, COMPLEMENTATION GROUP C
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
73 0.882 0.160 18 31598622 missense variant C/A snv 0.010 1.000 1 1993 1993