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: rs12721025
rs12721025 		1.000 0.040 11 116835331 upstream gene variant G/A snv 4.7E-02
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.800 1.000 2 2013 2019
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: rs12718465
rs12718465 		11 116837020 missense variant C/T snv 3.0E-03 8.9E-04
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2070665
rs2070665 		11 116836968 intron variant A/C;G snv 0.85
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5072
rs5072 		11 116836867 intron variant A/G snv 0.89
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5072
rs5072 		11 116836867 intron variant A/G snv 0.89
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5072
rs5072 		11 116836867 intron variant A/G snv 0.89
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7116797
rs7116797 		11 116836622 intron variant A/G snv 0.76
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs7116797
rs7116797 		11 116836622 intron variant A/G snv 0.76
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs121912716
rs121912716 		11 116836221 stop gained T/A snv
CUI: C4015831
Disease: APOLIPOPROTEIN A-I (MARBURG) PHENOTYPE
APOLIPOPROTEIN A-I (MARBURG) PHENOTYPE 		0.700 0
dbSNP: rs121912717
rs121912717 		1.000 0.040 11 116835948 stop gained C/A;T snv 4.0E-06; 1.6E-05
CUI: C4015832
Disease: APOLIPOPROTEIN A-I (MUNSTER4) PHENOTYPE
APOLIPOPROTEIN A-I (MUNSTER4) PHENOTYPE 		0.700 0
dbSNP: rs121912718
rs121912718 		11 116836134 missense variant C/G;T snv 4.0E-06; 2.0E-05
CUI: C4017713
Disease: APOLIPOPROTEIN A-I (NORWAY) PHENOTYPE
APOLIPOPROTEIN A-I (NORWAY) PHENOTYPE 		0.700 0
dbSNP: rs121912719
rs121912719 		11 116836112 missense variant G/C snv
CUI: C4015833
Disease: APOLIPOPROTEIN A-I (GIESSEN) PHENOTYPE
APOLIPOPROTEIN A-I (GIESSEN) PHENOTYPE 		0.700 0
dbSNP: rs121912720
rs121912720 		11 116837121 missense variant G/C;T snv 6.8E-05
CUI: C4015834
Disease: APOLIPOPROTEIN A-I (MUNSTER3C) PHENOTYPE
APOLIPOPROTEIN A-I (MUNSTER3C) PHENOTYPE 		0.700 0
dbSNP: rs121912721
rs121912721 		11 116837118 missense variant G/C snv 1.2E-05 2.8E-05
CUI: C4015835
Disease: APOLIPOPROTEIN A-I (MUNSTER3B) PHENOTYPE
APOLIPOPROTEIN A-I (MUNSTER3B) PHENOTYPE 		0.700 0
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
dbSNP: rs28929476
rs28929476 		11 116837100 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C4015839
Disease: APOLIPOPROTEIN A-I (BALTIMORE) PHENOTYPE
APOLIPOPROTEIN A-I (BALTIMORE) PHENOTYPE 		0.700 0
dbSNP: rs28931573
rs28931573 		11 116836023 missense variant G/A;T snv 4.2E-06
CUI: C4015830
Disease: APOLIPOPROTEIN A-I (MILANO) PHENOTYPE
APOLIPOPROTEIN A-I (MILANO) PHENOTYPE 		0.700 0
dbSNP: rs28931574
rs28931574 		0.925 0.120 11 116837053 missense variant C/G;T snv 2.8E-05
CUI: C4551500
Disease: Amyloid Polyneuropathy, Iowa Type
Amyloid Polyneuropathy, Iowa Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28931575
rs28931575 		1.000 11 116836271 missense variant A/G snv
CUI: C4015843
Disease: AMYLOIDOSIS, CARDIAC AND CUTANEOUS
AMYLOIDOSIS, CARDIAC AND CUTANEOUS 		0.700 0
dbSNP: rs387906571
rs387906571 		0.925 0.120 11 116836094 missense variant C/G snv
CUI: C4015843
Disease: AMYLOIDOSIS, CARDIAC AND CUTANEOUS
AMYLOIDOSIS, CARDIAC AND CUTANEOUS 		0.700 0