TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Senile cardiac amyloidosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.100 1.000 16 1999 2019
dbSNP: rs76992529
rs76992529 		0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.100 1.000 14 1997 2019
dbSNP: rs121918082
rs121918082 		0.827 0.280 18 31595244 missense variant G/C snv
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.020 1.000 2 2019 2019
dbSNP: rs267607161
rs267607161 		0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.020 1.000 2 2018 2020
dbSNP: rs11541796
rs11541796 		0.807 0.280 18 31593011 missense variant A/G snv
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121918085
rs121918085 		0.882 0.160 18 31595181 missense variant A/T snv 1.6E-05 3.5E-05
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121918095
rs121918095 		0.827 0.160 18 31598602 missense variant G/A snv 7.9E-04 2.2E-04
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1800458
rs1800458 		0.851 0.280 18 31592902 missense variant G/A snv 5.1E-02 5.2E-02
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs72922940
rs72922940 		0.925 0.160 18 31590735 intron variant A/G snv 9.8E-02
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs730881163
rs730881163 		0.882 0.160 18 31595155 missense variant C/A snv
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 1995 1995
dbSNP: rs79977247
rs79977247 		0.776 0.200 18 31592975 missense variant T/C;G snv
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs958191819
rs958191819 		0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019