chr1:159713648:C>A Detail (hg38) (CRP)

Information

Genome

Assembly Position
hg19 chr1:159,683,438-159,683,438 View the variant detail on this assembly version.
hg38 chr1:159,713,648-159,713,648

HGVS

Type Transcript Protein
RefSeq NM_000567.2:c.552G>T NP_000558.2:p.Leu184=
Ensemble ENST00000255030.9:c.552G>T ENST00000255030.9:p.Leu184=
ENST00000368110.1:c.194-8G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 colorectal cancer Genotype CC of rs1800947 in the C-reactive protein gene may increase susceptibil... BeFree 24761881 Detail
0.003 colorectal carcinoma Genotype CC of rs1800947 in the C-reactive protein gene may increase susceptibil... BeFree 24761881 Detail
0.012 Ischemic stroke [Association study between C-reactive protein genes and ischemic stroke in Japan... GAD 16733231 Detail
<0.001 Cerebral Small Vessel Diseases In a case-control design, 1,669 patients with ischemic stroke due to large-arter... BeFree 20733302 Detail
Annotation

Annotations

DescrptionSourceLinks
Genotype CC of rs1800947 in the C-reactive protein gene may increase susceptibility to colorectal ca... DisGeNET Detail
Genotype CC of rs1800947 in the C-reactive protein gene may increase susceptibility to colorectal ca... DisGeNET Detail
[Association study between C-reactive protein genes and ischemic stroke in Japanese subjects.] DisGeNET Detail
In a case-control design, 1,669 patients with ischemic stroke due to large-artery atherosclerosis, c... 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
-
Genome
hg38
Position
chr1:159,713,648-159,713,648
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121334
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6483425915242224E-5
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