Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.020 1.000 2 2009 2015
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C0497327
Disease: Dementia
Dementia 		0.020 1.000 2 2009 2015
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2003 2015
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 1.000 1 2009 2009
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 1.000 1 2009 2009
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 1.000 1 2015 2015
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2009 2009
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 1.000 1 2015 2015
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2009 2009