chr1:55039456:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:55,505,129-55,530,525 
hg38 chr1:55,039,456-55,064,852

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.025 Coronary heart disease In the present study, we have determined the relative frequency of the R46L, I47... BeFree 17550346 Detail
0.162 Hypercholesterolemia No association tests were performed for R46L variant because of its very low fre... BeFree 24793346 Detail
0.163 Hypercholesterolemia, Familial In the present study, we have determined the relative frequency of the R46L, I47... BeFree 17550346 Detail
<0.001 cholelithiasis NA BeFree Detail
0.010 Coronary Arteriosclerosis Early findings suggested that rare and low-frequency coding variation might have... BeFree,GAD 25185437 Detail
0.010 Coronary Arteriosclerosis PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and... BeFree,GAD 25239117 Detail
0.010 Coronary Arteriosclerosis It is an autosomal dominant disease, caused by variants in Ldlr, ApoB or Pcsk9, ... BeFree,GAD 25839937 Detail
0.025 Coronary heart disease Early findings suggested that rare and low-frequency coding variation might have... BeFree,GAD,LHGDN 25185437 Detail
0.025 Coronary heart disease PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and... BeFree,GAD,LHGDN 25239117 Detail
0.025 Coronary heart disease It is an autosomal dominant disease, caused by variants in Ldlr, ApoB or Pcsk9, ... BeFree,GAD,LHGDN 25839937 Detail
0.005 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree,GAD Detail
<0.001 hyperinsulinism Our results show an inhibitory effect of acute hyperinsulinemia on PCSK9 in huma... BeFree 24721682 Detail
<0.001 Hyperlipidemia NA BeFree Detail
<0.001 Hyperlipidemia, Familial Combined NA BeFree Detail
0.001 Hypobetalipoproteinemias NA BeFree Detail
0.002 Kidney Failure, Chronic NA GAD Detail
<0.001 Liver diseases NA BeFree Detail
<0.001 Liver neoplasms NA BeFree Detail
<0.001 melanoma NA BeFree Detail
0.013 myocardial infarction NA BeFree,GAD,LHGDN Detail
0.002 narcolepsy NA GAD Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
0.120 nephroblastoma NA GWASCAT Detail
<0.001 obesity The effect of insulin on circulating PCSK9 in postmenopausal obese women. BeFree 24721682 Detail
<0.001 peritonitis Pharmacological inhibition of PCSK9 improved survival and inflammation in murine... BeFree 25320235 Detail
<0.001 pseudoxanthoma elasticum Increased cholesterol biosynthesis, elevated PCSK9 levels and reduced APOE mRNA ... BeFree 25064003 Detail
0.010 Cerebrovascular accident NA BeFree,GAD,LHGDN Detail
<0.001 xanthomatosis NA BeFree Detail
0.003 Peripheral Vascular Diseases NA BeFree,GAD Detail
0.003 Myocardial Ischemia NA BeFree,GAD Detail
0.006 Dyslipidemias Recently, biologic and genetic research proposed several approaches to inhibit o... BeFree,LHGDN 25444750 Detail
0.006 Dyslipidemias Inhibitors of proprotein convertase subtilisin kexin type 9 (PCSK9) represent a ... BeFree,LHGDN 25911073 Detail
<0.001 Impaired glucose tolerance NA BeFree Detail
<0.001 Polygenic hypercholesterolemia NA BeFree Detail
<0.001 Secondary malignant neoplasm of liver NA BeFree Detail
0.002 dementia NA GAD Detail
<0.001 Overweight NA BeFree Detail
<0.001 Hepatitis C, Chronic PCSK9, apolipoprotein E and lipoviral particles in chronic hepatitis C genotype ... BeFree 25463543 Detail
<0.001 Carotid Atherosclerosis NA BeFree Detail
0.009 Hyperlipoproteinemia Type IIa NA BeFree Detail
<0.001 Intracranial Atherosclerosis NA BeFree Detail
<0.001 Ischemic stroke Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang... BeFree 25266949 Detail
0.003 Acute coronary syndrome The main objective of these studies is to evaluate the effect of PCSK9 inhibitio... BeFree,GAD 25856746 Detail
<0.001 Aortic calcification NA BeFree Detail
<0.001 Cardiovascular morbidity NA BeFree Detail
<0.001 Hyperlipoproteinemia Type IIb NA BeFree Detail
<0.001 Peripheral Arterial Diseases NA BeFree Detail
<0.001 Hyperaldosteronism, Familial, Type II NA BeFree Detail
0.001 Familial hypobetalipoproteinemia NA BeFree Detail
<0.001 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE NA BeFree Detail
0.130 coronary artery disease The L10 allele is associated with a reduced risk and severity of CAD, seemingly ... BeFree,CTD_human,GAD 25239117 Detail
0.130 coronary artery disease Proprotein convertase subtilisin/kexin type 9 (PCSK9) is related with CAD throug... BeFree,CTD_human,GAD 26266351 Detail
<0.001 liver carcinoma NA BeFree Detail
<0.001 Ischemic Cerebrovascular Accident Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang... BeFree 25266949 Detail
<0.001 Arteriosclerotic cardiovascular disease, NOS Gain-of-function mutations in PCSK9 are associated with familial hypercholestero... BeFree 25637042 Detail
<0.001 abetalipoproteinemia NA BeFree Detail
<0.001 adenoma NA BeFree Detail
0.004 arteriosclerosis PCSK9 inhibition fails to alter hepatic LDLR, circulating cholesterol, and ather... BeFree 25258384 Detail
0.004 arteriosclerosis We propose that PCSK9-ROS interaction may be important in the development of ath... BeFree 25490141 Detail
0.004 arteriosclerosis The mechanisms of action of PCSK9 inhibitors on lipoprotein metabolism and ather... BeFree 25881720 Detail
0.012 atherosclerosis PCSK9 inhibition fails to alter hepatic LDLR, circulating cholesterol, and ather... BeFree,GAD,LHGDN 25258384 Detail
0.012 atherosclerosis We propose that PCSK9-ROS interaction may be important in the development of ath... BeFree,GAD,LHGDN 25490141 Detail
0.012 atherosclerosis The mechanisms of action of PCSK9 inhibitors on lipoprotein metabolism and ather... BeFree,GAD,LHGDN 25881720 Detail
0.012 atherosclerosis Drugs which negate the action of PCSK9 can produce substantial reductions in ath... BeFree,GAD,LHGDN 25911073 Detail
Annotation

Annotations

DescrptionSourceLinks
In the present study, we have determined the relative frequency of the R46L, I474V and E670G variant... DisGeNET Detail
No association tests were performed for R46L variant because of its very low frequency, whereas the ... DisGeNET Detail
In the present study, we have determined the relative frequency of the R46L, I474V and E670G variant... DisGeNET Detail
NA DisGeNET Detail
Early findings suggested that rare and low-frequency coding variation might have a large effect on h... DisGeNET Detail
PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of alle... DisGeNET Detail
It is an autosomal dominant disease, caused by variants in Ldlr, ApoB or Pcsk9, which results in hig... DisGeNET Detail
Early findings suggested that rare and low-frequency coding variation might have a large effect on h... DisGeNET Detail
PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of alle... DisGeNET Detail
It is an autosomal dominant disease, caused by variants in Ldlr, ApoB or Pcsk9, which results in hig... DisGeNET Detail
NA DisGeNET Detail
Our results show an inhibitory effect of acute hyperinsulinemia on PCSK9 in humans both in vitro and... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The effect of insulin on circulating PCSK9 in postmenopausal obese women. DisGeNET Detail
Pharmacological inhibition of PCSK9 improved survival and inflammation in murine polymicrobial perit... DisGeNET Detail
Increased cholesterol biosynthesis, elevated PCSK9 levels and reduced APOE mRNA expression newly fou... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Recently, biologic and genetic research proposed several approaches to inhibit or reduce PCSK9 to im... DisGeNET Detail
Inhibitors of proprotein convertase subtilisin kexin type 9 (PCSK9) represent a new therapeutic cate... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
PCSK9, apolipoprotein E and lipoviral particles in chronic hepatitis C genotype 3: evidence for geno... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur popul... DisGeNET Detail
The main objective of these studies is to evaluate the effect of PCSK9 inhibition on the occurrence ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The L10 allele is associated with a reduced risk and severity of CAD, seemingly independently of its... DisGeNET Detail
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is related with CAD through low-density lipopr... DisGeNET Detail
NA DisGeNET Detail
Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur popul... DisGeNET Detail
Gain-of-function mutations in PCSK9 are associated with familial hypercholesterolemia, whereas loss-... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
PCSK9 inhibition fails to alter hepatic LDLR, circulating cholesterol, and atherosclerosis in the ab... DisGeNET Detail
We propose that PCSK9-ROS interaction may be important in the development of atherosclerosis in arte... DisGeNET Detail
The mechanisms of action of PCSK9 inhibitors on lipoprotein metabolism and atherosclerosis, as well ... DisGeNET Detail
PCSK9 inhibition fails to alter hepatic LDLR, circulating cholesterol, and atherosclerosis in the ab... DisGeNET Detail
We propose that PCSK9-ROS interaction may be important in the development of atherosclerosis in arte... DisGeNET Detail
The mechanisms of action of PCSK9 inhibitors on lipoprotein metabolism and atherosclerosis, as well ... DisGeNET Detail
Drugs which negate the action of PCSK9 can produce substantial reductions in atherogenic lipoprotein... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386599232 dbSNP
Genome
hg38
Position
chr1:55,039,456-55,064,852
Variant Type
snv
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