rs121918098, TTR

N. diseases: 7
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
68 0.807 0.200 18 31592939 missense variant A/G snv 0.800 1.000 29 1986 2014
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.807 0.200 18 31592939 missense variant A/G snv 0.030 1.000 3 2003 2019
CNS disorder
CUI: C0007682
Disease: CNS disorder
11 0.807 0.200 18 31592939 missense variant A/G snv 0.010 1.000 1 2003 2003
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.807 0.200 18 31592939 missense variant A/G snv 0.010 1.000 1 2004 2004
Primary Systemic Amyloidosis
CUI: C0281479
Disease: Primary Systemic Amyloidosis
10 0.807 0.200 18 31592939 missense variant A/G snv 0.010 1.000 1 2003 2003
Systemic amyloidosis
CUI: C0268380
Disease: Systemic amyloidosis
10 0.807 0.200 18 31592939 missense variant A/G snv 0.010 1.000 1 2003 2003
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
5 0.807 0.200 18 31592939 missense variant A/G snv 0.700 0