chr1:159713648:C>G 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>C NP_000558.2:p.Leu184=
Ensemble ENST00000255030.9:c.552G>C ENST00000255030.9:p.Leu184=
ENST00000368110.1:c.194-8G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.034
ToMMo:0.030
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.074

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 tgv3467858 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
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
134.14
Standard deviation of sample read depth (HGVD)
67.82
Number of reference allele (HGVD)
2337
Number of alternative allele (HGVD)
83
Allele Frequency (HGVD)
0.03429752066115702
Gene Symbol (HGVD)
CRP
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))
rs1800947
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0297
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
498
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
641
East Asian Heterozygous Counts (ExAC)
597
East Asian Homozygous Counts (ExAC)
22
East Asian Allele Frequency (ExAC)
0.07412118408880666
Chromosome Counts in All Race (ExAC)
121334
Allele Counts in All Race (ExAC)
6201
Heterozygous Counts in All Race (ExAC)
5829
Homozygous Counts in All Race (ExAC)
186
Allele Frequency in All Race (ExAC)
0.051106862050208514
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