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: rs121918085
rs121918085
TTR
0.882 0.160 18 31595181 missense variant A/T snv 1.6E-05 3.5E-05
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 30 1986 2017
dbSNP: rs121918085
rs121918085
TTR
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 		0.010 1.000 1 2017 2017
dbSNP: rs121918085
rs121918085
TTR
0.882 0.160 18 31595181 missense variant A/T snv 1.6E-05 3.5E-05
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.010 1.000 1 2003 2003