rs121918082, TTR

N. diseases: 6
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 0.827 0.280 18 31595244 missense variant G/C snv 0.840 0.971 34 1986 2019
Senile cardiac amyloidosis
CUI: C0268407
Disease: Senile cardiac amyloidosis
19 0.827 0.280 18 31595244 missense variant G/C snv 0.020 1.000 2 2019 2019
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.827 0.280 18 31595244 missense variant G/C snv 0.010 1 2016 2016
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.827 0.280 18 31595244 missense variant G/C snv 0.010 1.000 1 2019 2019
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.827 0.280 18 31595244 missense variant G/C snv 0.010 1.000 1 2006 2006
Carpal Tunnel Syndrome
CUI: C0007286
Disease: Carpal Tunnel Syndrome
46 0.827 0.280 18 31595244 missense variant G/C snv 0.010 1.000 1 2016 2016