APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
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: rs121912724
rs121912724
1.000 0.080 11 116836361 missense variant A/C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 1988 1994
dbSNP: rs28931574
rs28931574
0.925 0.120 11 116837053 missense variant C/G;T snv 2.8E-05
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1988 1994
dbSNP: rs121912726
rs121912726
1.000 0.080 11 116836392 missense variant A/G snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121912729
rs121912729
1.000 0.080 11 116836019 missense variant A/G snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121912730
rs121912730
1.000 0.080 11 116836017 missense variant C/G;T snv 8.3E-06
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0