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: rs121918081
rs121918081
TTR
0.925 0.200 18 31595124 missense variant A/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.810 1.000 1 1986 2017
dbSNP: rs121918081
rs121918081
TTR
0.925 0.200 18 31595124 missense variant A/G snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.010 1.000 1 2017 2017
dbSNP: rs121918081
rs121918081
TTR
0.925 0.200 18 31595124 missense variant A/G snv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2016 2016