rs121918075, TTR

N. diseases: 15
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 0.752 0.280 18 31598632 missense variant A/G snv 0.830 1.000 27 1986 2014
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
32 0.752 0.280 18 31598632 missense variant A/G snv 0.040 1.000 4 1990 2005
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.752 0.280 18 31598632 missense variant A/G snv 0.020 1.000 2 2005 2014
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
16 0.752 0.280 18 31598632 missense variant A/G snv 0.020 1.000 2 2005 2014
Amyloid angiopathy
CUI: C2931784
Disease: Amyloid angiopathy
3 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
AURAL ATRESIA, CONGENITAL
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
29 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2008 2008
Cerebral Amyloid Angiopathy
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
22 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2008 2008
Cerebral Amyloid Angiopathy, Hereditary
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
4 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2008 2008
CNS disorder
CUI: C0007682
Disease: CNS disorder
11 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
Paresis
CUI: C0030552
Disease: Paresis
49 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
Rapidly progressive dementia
CUI: C1847651
Disease: Rapidly progressive dementia
4 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2008 2008