chr1:56962821:A>G Detail (hg19) (PLPP3)

Information

Genome

Assembly Position
hg19 chr1:56,962,821-56,962,821
hg38 chr1:56,497,149-56,497,149 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003713.4:c.811-473T>C
Ensemble ENST00000371250.4:c.811-473T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.024
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 607125 OMIM
HGNC 9229 HGNC
Ensembl ENSG00000162407 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1622922 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Coronary Arteriosclerosis Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.248 coronary artery disease Shared genetic susceptibility to ischemic stroke and coronary artery disease: a ... GWASCAT 24262325 Detail
<0.001 Coronary heart disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
<0.001 coronary artery disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.246 coronary artery disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.121 Coronary heart disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.121 Coronary heart disease Large-scale association analysis identifies 13 new susceptibility loci for coron... GWASCAT 21378990 Detail
<0.001 Coronary heart disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.002 Coronary Arteriosclerosis Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
<0.001 coronary artery disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
<0.001 rheumatoid arthritis Our results do not confirm association between ABO rs579459, PPAP2B rs17114036, ... BeFree 24795506 Detail
<0.001 Coronary Arteriosclerosis Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.248 coronary artery disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.248 coronary artery disease [Large-scale association analysis identifies 13 new susceptibility loci for coro... GAD 21378990 Detail
<0.001 Coronary Arteriosclerosis Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
0.122 Coronary heart disease Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... BeFree 24795506 Detail
Annotation

Annotations

DescrptionSourceLinks
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Our results do not confirm association between ABO rs579459, PPAP2B rs17114036, ADAMTS7 rs3825807, P... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail
Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17114036 dbSNP
Genome
hg19
Position
chr1:56,962,821-56,962,821
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs17114036
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0236
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
395
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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