chr1:55030366:T>C Detail (hg38) (PCSK9)

Information

Genome

Assembly Position
hg19 chr1:55,496,039-55,496,039 View the variant detail on this assembly version.
hg38 chr1:55,030,366-55,030,366

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.050
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance association
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
association 2022-03-03 no assertion criteria provided familial hypercholesterolemia somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 diabetes mellitus We observed suggestive associations with the diabetes risk variant rs7961581 (p ... BeFree 24135527 Detail
0.126 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.025 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.004 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.001 Diabetes We observed suggestive associations with the diabetes risk variant rs7961581 (p ... BeFree 24135527 Detail
<0.001 diabetes mellitus We observed suggestive associations with the diabetes risk variant rs7961581 (p ... BeFree 24135527 Detail
0.128 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.016 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
<0.001 Vascular Diseases Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk i... BeFree 24251769 Detail
0.002 coronary artery disease [Large-scale association analysis identifies 13 new susceptibility loci for coro... GAD 21378990 Detail
0.019 Diabetes We observed suggestive associations with the diabetes risk variant rs7961581 (p ... BeFree 24135527 Detail
0.002 myocardial infarction [Genome-wide association of early-onset myocardial infarction with single nucleo... GAD 19198609 Detail
0.006 diabetes mellitus We observed suggestive associations with the diabetes risk variant rs7961581 (p ... BeFree 24135527 Detail
0.060 diabetes mellitus We observed suggestive associations with the diabetes risk variant rs7961581 (p ... BeFree 24135527 Detail
0.002 Fibrillation We observed suggestive associations with the diabetes risk variant rs7961581 (p ... BeFree 24135527 Detail
<0.001 Vascular Diseases Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk i... BeFree 24251769 Detail
0.127 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.126 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000001.11:g.55030366T>C AND Familial hypercholesterolemia ClinVar Detail
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... DisGeNET Detail
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general popula... DisGeNET Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... DisGeNET Detail
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... DisGeNET Detail
[Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms a... DisGeNET Detail
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... DisGeNET Detail
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... DisGeNET Detail
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... DisGeNET Detail
Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general popula... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Gene
-
dbSNP
rs11206510 dbSNP
Genome
hg38
Position
chr1:55,030,366-55,030,366
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs11206510
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0499
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
836
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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