APOB (apolipoprotein B)

Gene

• Entrez ID: 338
• Gene name: Apolipoprotein B
• Gene symbol: APOB
• Synonyms (NCBI Gene): FCHL2, FLDB, LDLCQ4, apoB-100, apoB-48
• Chromosome: 2
• Chromosome location: 2p24.1
• Summary: This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs693	G>A	Likely-benign, benign, benign-likely-benign, drug-response	Synonymous variant, coding sequence variant
rs1799812	C>T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs1800480	G>A,C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs1801696	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1801698	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1801700	G>A,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs2163204	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, missense variant
rs5742904	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs6413458	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs12713558	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs12713843	C>T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs12714097	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs12720810	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs41291161	A>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs61741164	T>A,C,G	Benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs61741974	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs61742247	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs72653061	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs72653071	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs72653073	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs72653093	G>A	Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs72653095	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs72653098	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs72653100	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs76202659	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant
rs121918383	G>A,C	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs121918384	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs121918385	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs121918386	G>A	Pathogenic	Stop gained, coding sequence variant
rs121918387	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs121918388	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121918389	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121918390	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs121918391	A>T	Pathogenic	Stop gained, coding sequence variant
rs138157751	A>G	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Synonymous variant, coding sequence variant
rs142448733	C>A,T	Uncertain-significance, likely-benign, benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143269114	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs143301836	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs144023029	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144034290	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144040999	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs144467873	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145142090	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs145777339	G>A	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs145862664	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146538280	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs147510760	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs148170480	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant
rs148502464	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs149306841	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150312765	G>A,C	Likely-benign, benign-likely-benign, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs186299244	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs186544754	C>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200623857	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200768300	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs201736972	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs281865425	TTGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs368278927	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs368825685	A>C,G	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs370481987	T>C	Pathogenic	Coding sequence variant, missense variant
rs376103623	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs387906569	C>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs397514255	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397514256	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs533755016	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs541497967	TCA>-	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, inframe deletion
rs562574661	CTG>-	Likely-benign, likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion
rs574725520	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs575505383	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs587776852	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231236	->CC	Pathogenic	Coding sequence variant, splice acceptor variant
rs730880052	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs747606537	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs748143305	T>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs756209187	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs759934326	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs760832994	AT>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs762028704	T>C	Pathogenic	Coding sequence variant, missense variant
rs766243954	C>A	Pathogenic	Coding sequence variant, stop gained
rs771015234	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs775345377	C>T	Uncertain-significance, likely-pathogenic	Splice donor variant
rs776107514	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs797045253	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs878853970	G>A	Pathogenic	Coding sequence variant, stop gained
rs878853973	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039829	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs933777198	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs935792706	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057518647	CCCGGTC>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1168594259	G>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1215189537	AAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1220363895	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1339117465	A>G	Pathogenic	Missense variant, coding sequence variant
rs1382988295	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1399892057	C>T	Pathogenic	Splice acceptor variant
rs1418775778	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs1442815965	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1553382295	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553382300	T>G	Pathogenic	Coding sequence variant, missense variant
rs1553382319	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553382325	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553382326	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553382678	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553383017	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553383473	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553383898	A>C	Pathogenic	Stop gained, coding sequence variant
rs1553383931	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553384177	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs1553384441	TAGCATACATAT>CCTAAG	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1553385404	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1553385715	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558560212	C>G	Likely-pathogenic	Splice acceptor variant
rs1558564161	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558565733	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1572785480	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1572799173	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1572799243	GGTTAGTTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572800245	T>C	Pathogenic	Splice acceptor variant
rs1572801523	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572802096	TCTGTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT665099	hsa-miR-624-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT638986	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT638985	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT731658	hsa-miR-548p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	28336556
MIRT665099	hsa-miR-624-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT638986	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT638985	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT628936	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT621332	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT621331	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT621330	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621329	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621328	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT621327	hsa-miR-885-5p	HITS-CLIP	23824327

Transcription factors

Transcription factor	Regulation	Reference
FOXA1	Activation	8441395
HNF4A	Unknown	1639815
NR2F1	Unknown	1639815
NR2F6	Unknown	1639815
PPARA	Activation	11925428
PPARA	Repression	16542871
PPARG	Repression	16542871

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	8245722, 16203724, 21911577, 22580899, 24447298, 25108285, 26224785, 27138255, 27487388
GO:0005543	Function	Phospholipid binding	IDA	7126555
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	26224785
GO:0005615	Component	Extracellular space	ISS	22261194
GO:0005737	Component	Cytoplasm	IDA	22580899
GO:0005737	Component	Cytoplasm	IEA
GO:0005769	Component	Early endosome	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005790	Component	Smooth endoplasmic reticulum	TAS
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006642	Process	Triglyceride mobilization	IBA
GO:0006642	Process	Triglyceride mobilization	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008201	Function	Heparin binding	IDA	16233946
GO:0008201	Function	Heparin binding	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	2563166
GO:0009566	Process	Fertilization	IEA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0009791	Process	Post-embryonic development	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IDA	17244792, 18322245, 19114110
GO:0010884	Process	Positive regulation of lipid storage	IDA	18322245
GO:0010886	Process	Positive regulation of cholesterol storage	IDA	19114110
GO:0016042	Process	Lipid catabolic process	IEA
GO:0019433	Process	Triglyceride catabolic process	IEA
GO:0030301	Process	Cholesterol transport	IBA
GO:0030301	Process	Cholesterol transport	IEA
GO:0030301	Process	Cholesterol transport	IMP	2563166
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031904	Component	Endosome lumen	TAS
GO:0033344	Process	Cholesterol efflux	IEA
GO:0034359	Component	Mature chylomicron	IBA
GO:0034359	Component	Mature chylomicron	IDA	4363408
GO:0034360	Component	Chylomicron remnant	TAS	6099394
GO:0034361	Component	Very-low-density lipoprotein particle	IBA
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	4363408, 15308631
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034361	Component	Very-low-density lipoprotein particle	TAS	27477018
GO:0034362	Component	Low-density lipoprotein particle	IBA
GO:0034362	Component	Low-density lipoprotein particle	IDA	4363408
GO:0034362	Component	Low-density lipoprotein particle	IEA
GO:0034362	Component	Low-density lipoprotein particle	TAS	27477018
GO:0034363	Component	Intermediate-density lipoprotein particle	IDA	1917954
GO:0034374	Process	Low-density lipoprotein particle remodeling	IMP	15797858
GO:0034379	Process	Very-low-density lipoprotein particle assembly	IC	15308631
GO:0034383	Process	Low-density lipoprotein particle clearance	IMP	2563166, 15797858
GO:0035473	Function	Lipase binding	IPI	9685400
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042158	Process	Lipoprotein biosynthetic process	IEA
GO:0042159	Process	Lipoprotein catabolic process	IEA
GO:0042627	Component	Chylomicron	IDA	4363408, 8245722
GO:0042627	Component	Chylomicron	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	2563166
GO:0042953	Process	Lipoprotein transport	IBA
GO:0042953	Process	Lipoprotein transport	IEA
GO:0043025	Component	Neuronal cell body	IDA	22897442
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	7853698
GO:0045540	Process	Regulation of cholesterol biosynthetic process	IEA
GO:0048018	Function	Receptor ligand activity	IDA	27477018
GO:0048844	Process	Artery morphogenesis	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IBA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IMP	2563166, 15797858
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IPI	27477018
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070971	Component	Endoplasmic reticulum exit site	IDA	27138255
GO:0071402	Process	Cellular response to lipoprotein particle stimulus	IDA	27477018
GO:0071402	Process	Cellular response to lipoprotein particle stimulus	IDA	27477018
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0120020	Function	Cholesterol transfer activity	IBA
GO:0120020	Function	Cholesterol transfer activity	IMP	15797858
GO:1904646	Process	Cellular response to amyloid-beta	IDA	23459077, 29518356

Other IDs

• MIM: 107730
• HGNC: 603
• e!Ensembl: ENSG00000084674

Protein

• UniProt ID: P04114
• Protein name: Apolipoprotein B-100 (Apo B-100) [Cleaved into: Apolipoprotein B-48 (Apo B-48)]
• Protein function: Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.
• PDB: 9BD1, 9BD8, 9BDE, 9BDT, 9COO, 9E9R, 9EA7, 9EAG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01347	Vitellogenin_N	46 → 598	Lipoprotein amino terminal region	Family
  PF09172	DUF1943	632 → 938	Domain of unknown function (DUF1943)	Domain
  PF06448	DUF1081	960 → 1071	Domain of Unknown Function (DUF1081)	Family
  PF12491	ApoB100_C	4494 → 4550	Apolipoprotein B100 C terminal	Family

• Sequence:

  MDPPRPALLALLALPALLLLLLAGARAEEEMLENVSLVCPKDATRFKHLRKYTYNYEAES
  SSGVPGTADSRSATRINCKVELEVPQLCSFILKTSQCTLKEVYGFNPEGKALLKKTKNSE
  EFAAAMSRYELKLAIPEGKQVFLYPEKDEPTYILNIKRGIISALLVPPETEEAKQVLFLD
  TVYGNCSTHFTVKTRKGNVATEISTERDLGQCDRFKPIRTGISPLALIKGMTRPLSTLIS
  SSQSCQYTLDAKRKHVAEAICKEQHLFLPFSYKNKYGMVAQVTQTLKLEDTPKINSRFFG
  EGTKKMGLAFESTKSTSPPKQAEAVLKTLQELKKLTISEQNIQRANLFNKLVTELRGLSD
  EAVTSLLPQLIEVSSPITLQALVQCGQPQCSTHILQWLKRVHANPLLIDVVTYLVALIPE
  PSAQQLREIFNMARDQRSRATLYALSHAVNNYHKTNPTGTQELLDIANYLMEQIQDDCTG
  DEDYTYLILRVIGNMGQTMEQLTPELKSSILKCVQSTKPSLMIQKAAIQALRKMEPKDKD
  QEVLLQTFLDDASPGDKRLAAYLMLMRSPSQADINKIVQILPWEQNEQVKNFVASHIANI
  LNSEELDIQDLKKLVKEALKESQLPTVMDFRKFSRNYQLYKSVSLPSLDPASAKIEGNLI
  FDPNNYLPKESMLKTTLTAFGFASADLIEIGLEGKGFEPTLEALFGKQGFFPDSVNKALY
  WVNGQVPDGVSKVLVDHFGYTKDDKHEQDMVNGIMLSVEKLIKDLKSKEVPEARAYLRIL
  GEELGFASLHDLQLLGKLLLMGARTLQGIPQMIGEVIRKGSKNDFFLHYIFMENAFELPT
  GAGLQLQISSSGVIAPGAKAGVKLEVANMQAELVAKPSVSVEFVTNMGIIIPDFARSGVQ
  MNTNFFHESGLEAHVALKAGKLKFIIPSPKRPVKLLSGGNTLHLVSTTKTEVIPPLIENR
  QSWSVCKQVFPGLNYCTSGAYSNASSTDSASYYPLTGDTRLELELRPTGEIEQYSVSATY
  ELQREDRALVDTLKFVTQAEGAKQTEATMTFKYNRQSMTLSSEVQIPDFDVDLGTILRVN
  DESTEGKTSYRLTLDIQNKKITEVALMGHLSCDTKEERKIKGVISIPRLQAEARSEILAH
  WSPAKLLLQMDSSATAYGSTVSKRVAWHYDEEKIEFEWNTGTNVDTKKMTSNFPVDLSDY
  PKSLHMYANRLLDHRVPQTDMTFRHVGSKLIVAMSSWLQKASGSLPYTQTLQDHLNSLKE
  FNLQNMGLPDFHIPENLFLKSDGRVKYTLNKNSLKIEIPLPFGGKSSRDLKMLETVRTPA
  LHFKSVGFHLPSREFQVPTFTIPKLYQLQVPLLGVLDLSTNVYSNLYNWSASYSGGNTST
  DHFSLRARYHMKADSVVDLLSYNVQGSGETTYDHKNTFTLSYDGSLRHKFLDSNIKFSHV
  EKLGNNPVSKGLLIFDASSSWGPQMSASVHLDSKKKQHLFVKEVKIDGQFRVSSFYAKGT
  YGLSCQRDPNTGRLNGESNLRFNSSYLQGTNQITGRYEDGTLSLTSTSDLQSGIIKNTAS
  LKYENYELTLKSDTNGKYKNFATSNKMDMTFSKQNALLRSEYQADYESLRFFSLLSGSLN
  SHGLELNADILGTDKINSGAHKATLRIGQDGISTSATTNLKCSLLVLENELNAELGLSGA
  SMKLTTNGRFREHNAKFSLDGKAALTELSLGSAYQAMILGVDSKNIFNFKVSQEGLKLSN
  DMMGSYAEMKFDHTNSLNIAGLSLDFSSKLDNIYSSDKFYKQTVNLQLQPYSLVTTLNSD
  LKYNALDLTNNGKLRLEPLKLHVAGNLKGAYQNNEIKHIYAISSAALSASYKADTVAKVQ
  GVEFSHRLNTDIAGLASAIDMSTNYNSDSLHFSNVFRSVMAPFTMTIDAHTNGNGKLALW
  GEHTGQLYSKFLLKAEPLAFTFSHDYKGSTSHHLVSRKSISAALEHKVSALLTPAEQTGT
  WKLKTQFNNNEYSQDLDAYNTKDKIGVELTGRTLADLTLLDSPIKVPLLLSEPINIIDAL
  EMRDAVEKPQEFTIVAFVKYDKNQDVHSINLPFFETLQEYFERNRQTIIVVLENVQRNLK
  HINIDQFVRKYRAALGKLPQQANDYLNSFNWERQVSHAKEKLTALTKKYRITENDIQIAL
  DDAKINFNEKLSQLQTYMIQFDQYIKDSYDLHDLKIAIANIIDEIIEKLKSLDEHYHIRV
  NLVKTIHDLHLFIENIDFNKSGSSTASWIQNVDTKYQIRIQIQEKLQQLKRHIQNIDIQH
  LAGKLKQHIEAIDVRVLLDQLGTTISFERINDILEHVKHFVINLIGDFEVAEKINAFRAK
  VHELIERYEVDQQIQVLMDKLVELAHQYKLKETIQKLSNVLQQVKIKDYFEKLVGFIDDA
  VKKLNELSFKTFIEDVNKFLDMLIKKLKSFDYHQFVDETNDKIREVTQRLNGEIQALELP
  QKAEALKLFLEETKATVAVYLESLQDTKITLIINWLQEALSSASLAHMKAKFRETLEDTR
  DRMYQMDIQQELQRYLSLVGQVYSTLVTYISDWWTLAAKNLTDFAEQYSIQDWAKRMKAL
  VEQGFTVPEIKTILGTMPAFEVSLQALQKATFQTPDFIVPLTDLRIPSVQINFKDLKNIK
  IPSRFSTPEFTILNTFHIPSFTIDFVEMKVKIIRTIDQMLNSELQWPVPDIYLRDLKVED
  IPLARITLPDFRLPEIAIPEFIIPTLNLNDFQVPDLHIPEFQLPHISHTIEVPTFGKLYS
  ILKIQSPLFTLDANADIGNGTTSANEAGIAASITAKGESKLEVLNFDFQANAQLSNPKIN
  PLALKESVKFSSKYLRTEHGSEMLFFGNAIEGKSNTVASLHTEKNTLELSNGVIVKINNQ
  LTLDSNTKYFHKLNIPKLDFSSQADLRNEIKTLLKAGHIAWTSSGKGSWKWACPRFSDEG
  THESQISFTIEGPLTSFGLSNKINSKHLRVNQNLVYESGSLNFSKLEIQSQVDSQHVGHS
  VLTAKGMALFGEGKAEFTGRHDAHLNGKVIGTLKNSLFFSAQPFEITASTNNEGNLKVRF
  PLRLTGKIDFLNNYALFLSPSAQQASWQVSARFNQYKYNQNFSAGNNENIMEAHVGINGE
  ANLDFLNIPLTIPEMRLPYTIITTPPLKDFSLWEKTGLKEFLKTTKQSFDLSVKAQYKKN
  KHRHSITNPLAVLCEFISQSIKSFDRHFEKNRNNALDFVTKSYNETKIKFDKYKAEKSHD
  ELPRTFQIPGYTVPVVNVEVSPFTIEMSAFGYVFPKAVSMPSFSILGSDVRVPSYTLILP
  SLELPVLHVPRNLKLSLPDFKELCTISHIFIPAMGNITYDFSFKSSVITLNTNAELFNQS
  DIVAHLLSSSSSVIDALQYKLEGTTRLTRKRGLKLATALSLSNKFVEGSHNSTVSLTTKN
  MEVSVATTTKAQIPILRMNFKQELNGNTKSKPTVSSSMEFKYDFNSSMLYSTAKGAVDHK
  LSLESLTSYFSIESSTKGDVKGSVLSREYSGTIASEANTYLNSKSTRSSVKLQGTSKIDD
  IWNLEVKENFAGEATLQRIYSLWEHSTKNHLQLEGLFFTNGEHTSKATLELSPWQMSALV
  QVHASQPSSFHDFPDLGQEVALNANTKNQKIRWKNEVRIHSGSFQSQVELSNDQEKAHLD
  IAGSLEGHLRFLKNIILPVYDKSLWDFLKLDVTTSIGRRQHLRVSTAFVYTKNPNGYSFS
  IPVKVLADKFIIPGLKLNDLNSVLVMPTFHVPFTDLQVPSCKLDFREIQIYKKLRTSSFA
  LNLPTLPEVKFPEVDVLTKYSQPEDSLIPFFEITVPESQLTVSQFTLPKSVSDGIAALDL
  NAVANKIADFELPTIIVPEQTIEIPSIKFSVPAGIVIPSFQALTARFEVDSPVYNATWSA
  SLKNKADYVETVLDSTCSSTVQFLEYELNVLGTHKIEDGTLASKTKGTFAHRDFSAEYEE
  DGKYEGLQEWEGKAHLNIKSPAFTDLHLRYQKDKKGISTSAASPAVGTVGMDMDEDDDFS
  KWNFYYSPQSSPDKKLTIFKTELRVRESDEETQIKVNWEEEAASGLLTSLKDNVPKATGV
  LYDYVNKYHWEHTGLTLREVSSKLRRNLQNNAEWVYQGAIRQIDDIDVRFQKAASGTTGT
  YQEWKDKAQNLYQELLTQEGQASFQGLKDNVFDGLVRVTQEFHMKVKHLIDSLIDFLNFP
  RFQFPGKPGIYTREELCTMFIREVGTVLSQVYSKVHNGSEILFSYFQDLVITLPFELRKH
  KLIDVISMYRELLKDLSKEAQEVFKAIQSLKTTEVLRNLQDLLQFIFQLIEDNIKQLKEM
  KFTYLINYIQDEINTIFSDYIPYVFKLLKENLCLNLHKFNEFIQNELQEASQELQQIHQY
  IMALREEYFDPSIVGWTVKYYELEEKIVSLIKNLLVALKDFHSEYIVSASNFTSQLSSQV
  EQFLHRNIQEYLSILTDPDGKGKEKIAELSATAQEIIKSQAIATKKIISDYHQQFRYKLQ
  DFSDQLSDYYEKFIAESKRLIDLSIQNYHTFLIYITELLKKLQSTTVMNPYMKLAPGELT
  IIL

• Sequence length: 4563

Pathways

KEGG:

Fat digestion and absorption
Vitamin digestion and absorption
Cholesterol metabolism
Lipid and atherosclerosis

Reactome:

Cell surface interactions at the vascular wall
Scavenging by Class B Receptors
Scavenging by Class A Receptors
Scavenging by Class F Receptors
Scavenging by Class H Receptors
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Platelet sensitization by LDL
Regulation of TLR by endogenous ligand
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDL assembly
Post-translational protein phosphorylation
Chylomicron assembly
Chylomicron remodeling
Chylomicron clearance
LDL clearance
LDL remodeling
VLDL clearance
Retinoid metabolism and transport

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
APOB-related disorder	Likely pathogenic; Pathogenic	rs1663118269, rs2465397269, rs5742904, rs756209187, rs1553383017, rs144467873	RCV004738380 RCV004534395 RCV004528126 RCV004737572 RCV004527617 RCV002243681
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs142066904, rs1663118269, rs2103354801, rs746483297, rs1663246215, rs5742904, rs756209187, rs144467873, rs1663384393	RCV002386560 RCV003163923 RCV006352485 RCV004654025 RCV005455887 RCV002399330 RCV004023361 RCV002399350 RCV002374949
Early-onset coronary artery disease	Pathogenic; Likely pathogenic	rs2465413489, rs1215189537	RCV002510455 RCV004702257
Familial hypercholesterolemia	Likely pathogenic; Pathogenic	rs2465374787, rs2465368367, rs121918386, rs5742904, rs1356095864, rs144467873	RCV002505925 RCV003581944 RCV001181782 RCV000771116 RCV004556984 RCV000780859
Familial hypobetalipoproteinemia	Pathogenic; Likely pathogenic	rs281865425, rs397514255, rs121918383, rs121918384, rs121918385, rs121918386, rs387906569, rs397514256, rs121918387, rs121918389, rs121918390, rs587776852, rs1572800245, rs606231236, rs759934326, rs1553383898, rs1553384177, rs1553384441, rs1553385404	RCV000019470 RCV000019471 RCV000019472 RCV000019473 RCV000019474 RCV000019476 RCV000019477 RCV000019478 RCV000019481 RCV000019483 RCV000019484 RCV000019485 RCV000019487 RCV000032601 RCV000508859 RCV000508719 RCV000508819 RCV000508881 RCV000508826
Familial hypobetalipoproteinemia 1	Likely pathogenic; Pathogenic	rs1663984693, rs1663150812, rs2103352794, rs1271191797, rs2103355244, rs2103357111, rs2103388847, rs2103380592, rs2103362763, rs142066904, rs1663118269, rs2103356720, rs2103384749, rs867418897, rs1188654362, rs2103354225, rs2103350572, rs2103354801, rs776671066, rs2103354942, rs2103351967, rs2103387447, rs2103355239, rs192004342, rs144892654, rs2103350639, rs2103352410, rs1572795820, rs2103383976, rs2103352780, rs2465438688, rs2465370870, rs2465425936, rs1663270865, rs779190356, rs2465371313, rs779776455, rs2465370629, rs746483297, rs2465365058, rs2465432746, rs1382988295, rs2465357914, rs2465388342, rs2465371960, rs1558269982, rs143301836, rs878853973, rs2465432680, rs2465391637, rs2465463570, rs1663149096, rs1663126920, rs1286460200, rs2465368920, rs2465413229, rs376032650, rs2465358719, rs1473455368, rs2465438693, rs2465369830, rs1663129046, rs1663296303, rs2465426269, rs1043381693, rs986986719, rs2465441803, rs2465374342, rs2465363561, rs2465459066, rs2465381618, rs2465362877, rs2465367585, rs2465374686, rs2465362511, rs2465369854, rs1663246215, rs760203474, rs1663556957, rs2465357289, rs2465359220, rs281865425, rs121918383, rs121918384, rs121918386, rs5742904, rs121918387, rs121918388, rs121918390, rs587776852, rs1572800245, rs121918391, rs1356095864, rs1057518647, rs766243954, rs1553383931, rs142017360, rs756209187, rs1553384177, rs1399892057, rs982371659, rs144467873, rs1220363895, rs1215189537, rs1553383473, rs1558560212, rs1558564161, rs368825685, rs775345377, rs1572801523, rs146538280, rs1572785480, rs1168594259, rs1572799173, rs1663184094, rs923192918, rs1663321162, rs1663384393, rs267599184, rs1663151257, rs1282116285, rs1441446862, rs1186975248, rs147863759, rs1663355633, rs373251374, rs1663298665, rs778476070, rs1663245097, rs1663117641, rs1663772190	RCV003804776 RCV001838502 RCV001838515 RCV001838518 RCV001838516 RCV001838517 RCV001528109 RCV001730045 RCV002541154 RCV002503267 RCV002482307 RCV003778404 RCV002506836 RCV001993744 RCV001905738 RCV001989672 RCV001950824 RCV001935547 RCV001937498 RCV001894915 RCV002000159 RCV001942133 RCV001913310 RCV001946876 RCV001956243 RCV001972773 RCV001959961 RCV001918189 RCV001948021 RCV002048485 RCV003089207 RCV002283885 RCV002468491 RCV002651441 RCV002647825 RCV002597801 RCV002666713 RCV002706069 RCV002790782 RCV002770446 RCV002917839 RCV002881790 RCV003011036 RCV003010299 RCV003025931 RCV003047950 RCV003058123 RCV001248959 RCV000227662 RCV005406656 RCV003314324 RCV003333618 RCV003785568 RCV003786250 RCV003781581 RCV003784259 RCV003781969 RCV003780969 RCV003780971 RCV003780972 RCV003789903 RCV003787079 RCV003790576 RCV003784442 RCV003784939 RCV003785191 RCV003798242 RCV003794125 RCV003806107 RCV003806502 RCV003807000 RCV003803493 RCV003798916 RCV003800442 RCV003808477 RCV003808545 RCV003809215 RCV003804898 RCV003804909 RCV003802321 RCV003812348 RCV003810247 RCV003810309 RCV001837436 RCV001851946 RCV002513122 RCV001851947 RCV000851289 RCV002496419 RCV001837438 RCV001027451 RCV001851948 RCV001851949 RCV001837442 RCV005220949 RCV000415324 RCV000470253 RCV000470110 RCV002524065 RCV001248960 RCV001837941 RCV005222982 RCV001837954 RCV000546905 RCV001814190 RCV001837444 RCV003767846 RCV001838025 RCV001838020 RCV001838117 RCV001838098 RCV001838109 RCV001027455 RCV001838217 RCV001837448 RCV001027452 RCV001027457 RCV001027458 RCV001838355 RCV001838348 RCV001838344 RCV001838358 RCV005219322 RCV001175120 RCV002560011 RCV001875998 RCV002559769 RCV003227929 RCV002558787 RCV003792668 RCV001196670 RCV001838455 RCV001838453 RCV001838432 RCV001838457
Homozygous familial hypercholesterolemia	Likely pathogenic; Pathogenic	rs5742904, rs144467873	RCV000844612 RCV000844613
Hypercholesterolemia, autosomal dominant, type B	Likely pathogenic; Pathogenic	rs1663984693, rs1663150812, rs2103352794, rs1271191797, rs2103355244, rs2103357111, rs2103388847, rs2103350703, rs2103362763, rs142066904, rs1663118269, rs2103356720, rs2103384749, rs867418897, rs1188654362, rs2103354225, rs2103350572, rs2103354801, rs776671066, rs2103354942, rs2103351967, rs2103387447, rs2103355239, rs192004342, rs144892654, rs2103350639, rs2103352410, rs1572795820, rs2103383976, rs2103352780, rs2103346437, rs1558562316, rs2103389975, rs773475226, rs730880052, rs2465370870, rs2465425936, rs1663270865, rs2465421714, rs779190356, rs2465371313, rs779776455, rs2465370629, rs746483297, rs2465365058, rs2465432746, rs1382988295, rs2465357914, rs2465388342, rs2465371960, rs1558269982, rs878853973, rs2465463570, rs1663149096, rs1663126920, rs1286460200, rs2465368920, rs2465413229, rs376032650, rs2465358719, rs1473455368, rs2465438693, rs2465369830, rs1663129046, rs1663296303, rs2465426269, rs1043381693, rs986986719, rs2465441803, rs2465374342, rs2465363561, rs2465459066, rs2465381618, rs2465362877, rs2465367585, rs2465374686, rs2465362511, rs2465369854, rs1663246215, rs760203474, rs1663556957, rs2465357289, rs2465359220, rs2465368117, rs281865425, rs121918383, rs121918384, rs121918386, rs5742904, rs121918387, rs121918390, rs587776852, rs1572800245, rs121918391, rs769836306, rs1356095864, rs766243954, rs1553383931, rs142017360, rs756209187, rs1553383017, rs1553384177, rs1399892057, rs982371659, rs144467873, rs1220363895, rs1215189537, rs1553383473, rs1558560212, rs1558564161, rs368825685, rs775345377, rs1572801523, rs146538280, rs1663184094, rs923192918, rs1663321162, rs1663384393, rs267599184, rs1663151257, rs1282116285, rs1441446862, rs1186975248, rs147863759, rs1663355633, rs373251374, rs778476070, rs1663245097, rs1663117641, rs1663772190, rs773255823, rs1422346794	RCV003804776 RCV001838502 RCV001838515 RCV001838518 RCV001838516 RCV001838517 RCV001873727 RCV001730059 RCV002541154 RCV002503267 RCV001814604 RCV003778404 RCV002506836 RCV001993744 RCV001905738 RCV001989672 RCV001950824 RCV001935547 RCV001937498 RCV001894915 RCV002000159 RCV001942133 RCV001913310 RCV001946876 RCV001956243 RCV001972773 RCV001959961 RCV001918189 RCV001948021 RCV002048485 RCV003089207 RCV002249252 RCV002249253 RCV002249255 RCV002466286 RCV000157117 RCV002468491 RCV002651441 RCV002647825 RCV002512474 RCV002597801 RCV002666713 RCV002706069 RCV002790782 RCV002770446 RCV002917839 RCV002881790 RCV003011036 RCV003010299 RCV003025931 RCV003047950 RCV003058123 RCV001837786 RCV003333617 RCV003785568 RCV003786250 RCV003781581 RCV003784259 RCV003781969 RCV003780969 RCV003780971 RCV003780972 RCV003789903 RCV003787079 RCV003790576 RCV003784442 RCV003784939 RCV003785191 RCV003798242 RCV003794125 RCV003806107 RCV003806502 RCV003807000 RCV003803493 RCV003798916 RCV003800442 RCV003808477 RCV003808545 RCV003809215 RCV003804898 RCV003804909 RCV003802321 RCV003812348 RCV003810247 RCV003810309 RCV004006241 RCV001837436 RCV001851946 RCV002513122 RCV001851947 RCV000412515 RCV002496419 RCV001837439 RCV001851948 RCV001851949 RCV001851950 RCV004556928 RCV005220949 RCV001837905 RCV001837914 RCV002524065 RCV001837939 RCV001837941 RCV005222982 RCV000511036 RCV001837954 RCV001837953 RCV003767336 RCV000231844 RCV003767846 RCV001838025 RCV001838020 RCV001838117 RCV001838098 RCV001838109 RCV001838187 RCV001838217 RCV001837448 RCV001838355 RCV001838348 RCV001838344 RCV001838358 RCV005219322 RCV001875772 RCV002560011 RCV001875998 RCV002559769 RCV003227929 RCV002558787 RCV003792668 RCV001838455 RCV001838453 RCV001838432 RCV001838457 RCV001254112 RCV001262468
Hypercholesterolemia, familial, 1	Pathogenic; Likely pathogenic	rs886039829, rs5742904, rs1135402766, rs142017360, rs1135402765, rs1135402764, rs1135402762, rs1382988295, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs1553385404, rs1553385715, rs144467873, rs1572802096, rs1235521190, rs1664202070, rs1663251692	RCV000256308 RCV000019479 RCV000497198 RCV000497128 RCV000497038 RCV000497055 RCV000497176 RCV000505259 RCV000508735 RCV000508777 RCV000508877 RCV000508784 RCV000508958 RCV000508925 RCV000508738 RCV000408839 RCV000986595 RCV001255939 RCV001255938 RCV001256748
Hypobetalipoproteinemia	Likely pathogenic; Pathogenic	rs144892654, rs797045253, rs2465365058, rs143301836, rs2465463570, rs2465364633, rs2465380748, rs5742904, rs1057518647, rs1553382678, rs756209187, rs145143533	RCV004017887 RCV000193633 RCV004017953 RCV000218762 RCV004017983 RCV004018328 RCV004018330 RCV000499833 RCV000853310 RCV000503226 RCV000501647 RCV004017789
See cases	Likely pathogenic; Pathogenic	rs5742904	RCV004584331

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
APOB POLYMORPHISM IN SIGNAL PEPTIDE	Benign; Likely benign	rs17240441	RCV003389246
Cholangiocarcinoma	Benign	rs751121092	RCV005869645
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs1663415670	RCV004560288
Gastric cancer	Conflicting classifications of pathogenicity	rs368321279	RCV005896105
Hypercholesterolemia	Conflicting classifications of pathogenicity	rs72653092, rs13306191, rs145862664, rs1466172660	RCV000417323 RCV000417228 RCV000417290 RCV004773127
Hypercholesterolemia, autosomal dominant, 3	Conflicting classifications of pathogenicity	rs761164094	RCV000845522
Isolated systolic hypertension	Benign; Likely benign	rs676210	RCV002463436
Malignant lymphoma, large B-cell, diffuse	Benign	rs751121092	RCV005869644
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs571626569	RCV005898460
Marfanoid habitus and intellectual disability	Uncertain significance	rs1572801584	RCV000850461
Muscle AMP deaminase deficiency	Uncertain significance	rs1663322198	RCV002464977
Neutrophilia in presence of infection	Benign; Likely benign	rs676210	RCV002463436
Spastic ataxia	Uncertain significance	rs769299791	RCV001644939
Triangular shaped proximal phalanx of the thumb	Benign; Likely benign	rs676210	RCV002463436
Warfarin response	Benign; Likely benign; Conflicting classifications of pathogenicity	rs1042034, rs679899, rs1367117, rs693, rs13306194	RCV000845573 RCV000845574 RCV000845576 RCV000845577 RCV000845575

Associations from Text Mining
Disease Name	Relationship Type	References
Abetalipoproteinemia	Associate	1860638, 1939657, 2339706, 2429992, 27179706, 28514664, 2903181, 34078172, 3782476, 7229035, 8533758, 8770313, 8808765, 8939939
Abetalipoproteinemia	Inhibit	23556456
Abortion Habitual	Inhibit	39176081
Acalculous Cholecystitis	Associate	7616125
Acute Coronary Syndrome	Associate	30242056, 35440891
Adenocarcinoma	Associate	36171259
Adenomatous Polyposis Coli	Associate	37565794
alpha 1 Antitrypsin Deficiency	Associate	31832977
Alzheimer Disease	Associate	28943632, 31135820, 34459398, 35011591, 36114174, 39923073
Amyotrophic Lateral Sclerosis	Stimulate	34518331
Amyotrophic Lateral Sclerosis	Associate	39923073
Anemia Sickle Cell	Associate	26025476
Anemia Sickle Cell	Stimulate	38265339
Aphasia Conduction	Associate	40065360
Apolipoprotein E Deficiency or Defect of	Inhibit	3771793
Arrhythmogenic Right Ventricular Dysplasia	Associate	36008935
Arthritis	Associate	34996506
Arthritis Gouty	Associate	7794039
Arthritis Psoriatic	Stimulate	34996506
Ataxia	Associate	18458655, 23043354
Ataxia Telangiectasia	Inhibit	31311983
Atherosclerosis	Associate	11579088, 11815617, 16201717, 19282639, 20334678, 2079601, 2351870, 24069429, 26459191, 2885324, 29162127, 29574070, 30242056, 32130292, 33640328, 34773460, 34849601, 35440891, 36542145, 36769130, 37477701, 37517561, 3759943, 39428345, 7662714, 8063810, 9463319
Atrial Fibrillation	Associate	34587962
Autism Spectrum Disorder	Associate	34504056
Autistic Disorder	Associate	34504056
Autoimmune Diseases	Associate	29617672, 34539672
Bile Duct Neoplasms	Associate	18296645
Bipolar Disorder	Associate	24882193, 30315151
Bone Diseases Metabolic	Inhibit	23556456
Bone Diseases Metabolic	Associate	24106285, 7508006
Breast Neoplasms	Associate	26682542, 34105210
Bronchopulmonary Dysplasia	Associate	36757497
Carcinoma Endometrioid	Associate	39193372
Carcinoma Hepatocellular	Associate	15123606, 18550891, 23723369, 28622513, 29514927, 35637248, 35998012, 40180213, 8602361
Carcinoma Merkel Cell	Associate	36970060
Carcinoma Non Small Cell Lung	Associate	32238407
Carcinoma Pancreatic Ductal	Associate	30206226, 32243098
Carcinoma Renal Cell	Associate	31140607
Cardiomyopathy Dilated	Associate	33860048
Cardiovascular Diseases	Associate	15543563, 15805152, 17953518, 21080476, 23468263, 26842615, 28219664, 29776362, 30298424, 31882500, 31903889, 32430061, 33686948, 36197256, 36380121, 36769130, 8943493
Cardiovascular Diseases	Stimulate	17890784
Carotid Stenosis	Associate	33686948
Carotid Stenosis	Stimulate	36769130
Cerebellar Ataxia	Associate	23043354
Cerebral Infarction	Associate	19934556, 27554116, 32891149, 32981134, 39889961
Cerebral Infarction	Stimulate	24151447, 28982360, 32644829, 36066144
Cerebral Small Vessel Diseases	Associate	32981134
Chronic Disease	Associate	36197256
Chylomicron retention disease	Associate	19713673, 22104167
Cleft Lip	Stimulate	23001979
Clinical Deterioration	Associate	34504056
Cognition Disorders	Associate	31043469, 34135129
Colitis Associated Neoplasms	Associate	35733095
Colonic Neoplasms	Associate	8441395
Colorectal Neoplasms	Associate	30542696, 31300050, 36864816
Coronary Artery Disease	Associate	10803441, 11748351, 12640502, 12754559, 12964943, 16316917, 16594908, 19014618, 20334678, 20715976, 21059979, 21889313, 22507620, 22834788, 24530664, 24552169, 25134189, 26415676, 26946290, 28167353, 28982360, 33130851, 34139859, 34313350, 34815491, 36574567, 36870196, 37848354, 38241044, 39244851, 39445733, 40135555, 9254062, 9339897, 9799092
Coronary Disease	Associate	10484616, 11170229, 11230170, 17142622, 17890784, 19336475, 19494537, 20412465, 21804106, 23054246, 23468263, 2351870, 27112212, 27554116, 28213390, 28320750, 29362515, 30694319, 30939045, 31931463, 34341098, 34729547, 35045726, 36691918, 37941911, 38102060, 38233012, 39322327, 7883971, 8533758
Coronary Disease	Stimulate	11290835
Coronary Stenosis	Associate	33787603
COVID 19	Associate	34276680, 35415903, 36400032, 36426391
Coxa Magna	Associate	26617857
Crohn Disease	Associate	25250685, 8014581
Deafness	Associate	26636822
Death	Associate	30694319
Dementia	Associate	20972885
Diabetes Gestational	Associate	34665686, 39428345
Diabetes Mellitus	Associate	12444310, 12867534, 26025476, 34729547, 34996506, 36499290, 37517561, 37914804, 40016689
Diabetes Mellitus	Stimulate	20855567
Diabetes Mellitus Type 2	Associate	14746565, 21497351, 29617380, 30535058, 34729547, 34789800, 34805411, 35317787, 35732646, 37914804, 39511203
Diabetic Nephropathies	Associate	23879411
Diastrophic dysplasia	Associate	10636265
Duodenal Neoplasms	Associate	37565794
Dyskeratosis Congenita	Associate	34929494
Dyslipidemias	Associate	10803441, 16343038, 22896670, 25292352, 25587205, 25897955, 27054361, 29126409, 29574070, 3001697, 31833377, 32401924, 3464946, 35317787, 36197256, 37582372, 40114142, 40180213, 6631214
Dystonic Disorders	Associate	15485476
Enterocolitis Necrotizing	Associate	36371157
Epileptic Syndromes	Associate	10357843, 15805152, 16594908, 17142622, 17694954, 1993649, 21059979, 23054246, 23669246, 24987033, 2563166, 26643808, 26908947, 2843815, 3200853, 33955087, 36834740, 8254047, 8906585, 9151801, 9603795, 9698020, 9797493
Erythrocytosis Familial 2	Associate	26025476
Essential Hypertension	Associate	36197256
Fatty Liver	Associate	11893777, 14732481, 14967820, 23723369, 27054361, 31000363, 33454241, 35413066, 35457099, 40065360, 40180213
Fetal Growth Retardation	Associate	38069155
Fibrosis	Associate	23723369
Frontotemporal Dementia	Associate	26643808, 34539672
Gallbladder Diseases	Associate	20503456, 7616125
Gallbladder Neoplasms	Inhibit	20082485
Gallbladder Neoplasms	Associate	20082485
Gallstones	Associate	20082485, 20503456, 7616125
Genetic Diseases Inborn	Associate	11574954, 26025476, 3477815
Glioblastoma	Associate	29513714
Glomerulonephritis Membranous	Associate	37511514
Gout	Associate	25432151
Graft vs Host Disease	Associate	8944430
Guillain Barre Syndrome	Stimulate	38143756
Heart Diseases	Associate	2351870, 26636822, 34729547, 36114174
Heart Failure	Associate	25528061, 39809209
Hepatitis B	Associate	36098309
Hepatitis C	Associate	18393287
Hepatitis C Chronic	Associate	23001979, 28018102
Hernia	Associate	23631828
Hodgkin Disease	Associate	31816062
Homozygous Familial Hypercholesterolemia	Associate	33599434, 37850379, 6876109
Hypercholesterolemia	Associate	10357843, 10677305, 11170232, 11483625, 15061621, 15797858, 1977310, 1993649, 25292352, 2563166, 30266833, 30315151, 33128957, 35741760, 37108800, 37848354, 39445733, 4363408, 7693760, 7883971, 9254062, 9603795
Hyperlipidemia Familial Combined	Associate	10205279, 12560593, 16106049, 17127808, 19335919, 19834104, 19965785, 20383777, 31725952, 8678927, 9157945, 9683593
Hyperlipidemias	Associate	12923233, 23468263, 23546960, 28902930, 2901432, 8063810, 8263419
Hyperlipoproteinemia Type I	Stimulate	10946020
Hyperlipoproteinemia Type I	Inhibit	22095987
Hyperlipoproteinemia Type II	Associate	10205269, 10357843, 10984082, 11170232, 11179013, 11483625, 11574954, 14967814, 15701167, 16594908, 1684620, 17694954, 1770302, 17964958, 19007590, 20571503, 20809525, 21146822, 23064986, 23468263, 23535506, 23537714, 23593297, 25035151, 25414277, 25962062, 26020417, 26361156, 26415676, 26802169, 26892515, 2715722, 27824480, 28104544, 28428224, 28619117, 28772107, 28873201, 29213121, 29261184, 29374275, 29386597, 29396260, 29561990, 30270359, 30592178, 30593551, 30637778, 30681615, 30971288, 31106297, 31345425, 31427613, 31653860, 31767518, 31932084, 3200853, 32459195, 32489792, 32606442, 32759540, 33096472, 33268660, 33418990, 33601267, 33892292, 33994402, 34011801, 34297352, 34407635, 35052492, 35300601, 36011335, 36167182, 36173399, 36226792, 36648309, 37108800, 37137225, 37185657, 37217153, 37477701, 37565868, 37853441, 38122934, 39244851, 7883971, 7989875, 8006512, 8371062, 8509718, 8978490, 9026529, 9507998, 9603795, 9925662
Hyperlipoproteinemia Type II	Stimulate	17200715, 22653811
Hyperlipoproteinemia Type III	Associate	37685967
Hyperlipoproteinemia Type IV	Associate	33588820
Hyperlipoproteinemias	Associate	7985674
Hypertension	Associate	18801202, 19772655, 25587205, 29208002, 32401924, 34729547, 34996506, 36197256, 36769130, 37517561
Hypertrichosis congenital generalized X linked	Associate	9706990
Hypertriglyceridemia	Associate	11483625, 20657596, 22095987, 23001979, 29208002, 32115487, 4363408, 8063810
Hypertriglyceridemic Waist	Stimulate	8450056
Hyperuricemia	Associate	25432151
Hypoalphalipoproteinemias	Associate	22658148
Hypobetalipoproteinemia Familial 1	Associate	28633452, 3473077
Hypobetalipoproteinemia Familial 2	Associate	1619363
Hypobetalipoproteinemia Familial Apolipoprotein B	Associate	15102883
Hypobetalipoproteinemias	Associate	10224159, 10224165, 11590210, 11688825, 11893777, 12551903, 1431583, 14732481, 14967820, 1527480, 15797858, 1602000, 1619363, 17588943, 1770316, 17890784, 1940616, 20032471, 2022744, 21502677, 22658148, 2312735, 2567736, 2614276, 26323024, 26916057, 27179706, 2828430, 2901434, 29540175, 30939045, 32093271, 3473077, 35457099, 37718180, 7229035, 8014581, 8263419, 8354962, 8468533, 8732784, 8770313, 9101440
Hypobetalipoproteinemias	Inhibit	19562718, 33207932
Hypoxia Brain	Associate	26025476
Idiopathic Noncirrhotic Portal Hypertension	Associate	34052252
Infarction Anterior Cerebral Artery	Associate	32981134
Infarction Anterior Cerebral Artery	Stimulate	39889961
Infections	Associate	18393287
Infertility Female	Associate	20407020
Inflammation	Associate	30242056, 31185305, 32023884, 35317787, 35413066, 35732646
Inflammatory Bowel Diseases	Associate	33588072
Insulin Resistance	Associate	14967820, 26553260, 29698057, 29946054, 31903889, 8100834
Insulin Resistance	Stimulate	24142110
Intervertebral Disc Degeneration	Associate	36746221
Intestinal Pseudo Obstruction	Associate	15547300
Ischemic Attack Transient	Associate	29385837
Kidney Calculi	Associate	7616125
Kidney Diseases	Associate	8731088
Kidney Failure Chronic	Inhibit	8432847
Lecithin Cholesterol Acyltransferase Deficiency	Associate	22658148, 35598637, 7989589
Leukemia Monocytic Acute	Associate	19661723
Lipid Metabolism Disorders	Associate	11574954, 25248404, 26617857
Liver Cirrhosis	Associate	1568667, 23001979
Liver Diseases	Associate	40065360
Lung Neoplasms	Associate	36089134
Lupus Erythematosus Systemic	Associate	29617672, 33640328, 35999016
Macular Degeneration	Associate	18182060, 20598021
Macular Degeneration	Inhibit	39497194
Mental Disorders	Associate	24882193, 33588072
Metabolic Diseases	Associate	40180213
Metabolic Syndrome	Stimulate	19713673
Metabolic Syndrome	Associate	21393584, 25671620, 31903889, 32430061, 34016094, 34219465, 36499290, 40481456
Multiple Myeloma	Associate	31387987
Multiple Sclerosis	Associate	35135578
Myocardial Infarction	Associate	23067240, 23697869, 24386469, 27683205, 30298424, 30694319, 30971288, 34773460
Myocardial Ischemia	Associate	33927215, 9603795
Neoplasms	Associate	11727199, 26682542, 26832400, 29140415, 31835137, 36595567, 36864816, 36970060, 37565794, 8602361
Neoplasms Adipose Tissue	Associate	26451733
Nephrotic Syndrome	Associate	34511173, 8731088
Nephrotic Syndrome	Stimulate	37511514
Nervous System Diseases	Associate	31397093
Neurodegenerative Diseases	Associate	36197256, 39461112
Neurofibromatosis Noonan syndrome	Associate	34838008
Neurologic Manifestations	Associate	32093271
Non alcoholic Fatty Liver Disease	Associate	27054361, 30842500, 33454241, 35413066
Non ST Elevated Myocardial Infarction	Inhibit	33667626
Obesity	Associate	10706596, 12055319, 19772655, 20855567, 20930716, 28974732, 34805411, 34975757, 35317787, 36197256, 37517561, 40114142, 9553735, 9741687
Obesity	Stimulate	11500319
Obesity Abdominal	Associate	9741687
Oropharyngeal Neoplasms	Associate	29950685
Osteoarthritis	Inhibit	35405941
Osteoarthritis Hip	Inhibit	35405941
Osteoarthritis Knee	Inhibit	35405941
Osteogenesis imperfecta type 3	Associate	20413671
Osteonecrosis	Associate	25248404
Ovarian Neoplasms	Associate	29170526, 34745121, 34997982
Overweight	Associate	25134189, 26025476, 34975757
Parkinson Disease	Associate	28943632
Pena Shokeir syndrome type 1	Associate	32093271
Periodontitis	Associate	18248365, 34805411
Periodontitis	Inhibit	34805411
Peripheral Arterial Disease	Associate	34139859, 39304430
Peripheral Vascular Diseases	Associate	7883971
Phenylketonurias	Associate	32106880
Plaque Atherosclerotic	Associate	11579088
Polycystic Ovary Syndrome	Associate	25956367, 28937295, 29636060
Polycystic Ovary Syndrome	Stimulate	32482257
Polypoidal Choroidal Vasculopathy	Associate	31877157
Pre Eclampsia	Associate	39202588
Prostatic Hyperplasia	Associate	22952051
Prostatic stromal proliferation of uncertain malignant potential	Associate	37013557
Psychological Distress	Stimulate	31121870
Pulmonary edema of mountaineers	Associate	28242600
Renal Insufficiency Chronic	Stimulate	31109090
Rhinitis Allergic	Associate	31185305
Riboflavin Deficiency	Associate	15867268
Schizophrenia	Associate	34135129
Sleep Apnea Obstructive	Associate	24232699
Sleep Initiation and Maintenance Disorders	Associate	35432581
Squamous Cell Carcinoma of Head and Neck	Associate	32775421, 37013557, 37686462
ST Elevation Myocardial Infarction	Associate	30298424
Stomach Neoplasms	Associate	32176636, 36430456
Stroke	Associate	34729547
Takotsubo Cardiomyopathy	Associate	32695227
Tangier Disease	Associate	1701170
Thrombosis	Associate	28540474
Thymoma	Associate	36991043
Thyroid Cancer Papillary	Inhibit	31311983
Thyroid Crisis	Inhibit	33524107
Thyroid Neoplasms	Associate	38127052
Tobacco Use Disorder	Associate	35590255
Uremia	Associate	39809209
Urinary Bladder Neoplasms	Associate	23631828, 29028944, 31233191
Uterine Cervical Dysplasia	Associate	29950685
Uveal melanoma	Associate	33120861
Venous Thrombosis	Associate	28540474
Vertigo	Associate	1770302
Virus Diseases	Associate	28018102
Xanthomatosis	Associate	1797940, 23468263