chr1:159713301:G>A Detail (hg38) (CRP)

Information

Genome

Assembly Position
hg19 chr1:159,683,091-159,683,091 View the variant detail on this assembly version.
hg38 chr1:159,713,301-159,713,301

HGVS

Type Transcript Protein
RefSeq NM_000567.2:c.*224C>T
Ensemble ENST00000255030.9:c.*224C>T
ENST00000368110.1:c.*22+202C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.072
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 123260 OMIM
HGNC 2367 HGNC
Ensembl ENSG00000132693 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3467807 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 Cerebral Small Vessel Diseases In a case-control design, 1,669 patients with ischemic stroke due to large-arter... BeFree 20733302 Detail
0.012 Ischemic stroke Our study indicates that SNP rs1130864 in the CRP gene is an independent predict... BeFree 23980698 Detail
0.005 Ischemic Cerebrovascular Accident Our study indicates that SNP rs1130864 in the CRP gene is an independent predict... BeFree 23980698 Detail
Annotation

Annotations

DescrptionSourceLinks
In a case-control design, 1,669 patients with ischemic stroke due to large-artery atherosclerosis, c... DisGeNET Detail
Our study indicates that SNP rs1130864 in the CRP gene is an independent predictor of 3-month functi... DisGeNET Detail
Our study indicates that SNP rs1130864 in the CRP gene is an independent predictor of 3-month functi... 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
rs1130864 dbSNP
Genome
hg38
Position
chr1:159,713,301-159,713,301
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs1130864
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0715
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1198
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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