Source: ALL

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: rs121918094
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 22 1986 2014
dbSNP: rs121918094
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 1999 2015
dbSNP: rs121918094
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs121918094
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 1.000 1 2013 2013
dbSNP: rs121918094
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv
CUI: C0036690
Disease: Septicemia
Septicemia 		0.010 1.000 1 2010 2010
dbSNP: rs121918094
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 1.000 1 2013 2013
dbSNP: rs121918094
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 1.000 1 2010 2010
dbSNP: rs121918094
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.010 1.000 1 2013 2013