rs121918100, TTR

N. diseases: 11
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 0.827 0.160 18 31595184 missense variant T/C snv 0.800 1.000 25 1986 2015
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
5 0.827 0.160 18 31595184 missense variant T/C snv 0.700 0
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.827 0.160 18 31595184 missense variant T/C snv 0.020 1.000 2 2003 2015
Dementia
CUI: C0497327
Disease: Dementia
176 0.827 0.160 18 31595184 missense variant T/C snv 0.020 1.000 2 2009 2015
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.827 0.160 18 31595184 missense variant T/C snv 0.020 1.000 2 2009 2015
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2015 2015
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2015 2015
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009