rs121918093, TTR

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.
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
68 0.882 0.200 18 31592944 missense variant G/A;C snv 4.0E-06 0.800 1.000 22 1986 2014
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.882 0.200 18 31592944 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
Primary Systemic Amyloidosis
CUI: C0281479
Disease: Primary Systemic Amyloidosis
10 0.882 0.200 18 31592944 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 1996 1996
Systemic amyloidosis
CUI: C0268380
Disease: Systemic amyloidosis
10 0.882 0.200 18 31592944 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 1996 1996