chr1:159712443:C>T Detail (hg38) (CRP)

Information

Genome

Assembly Position
hg19 chr1:159,682,233-159,682,233 View the variant detail on this assembly version.
hg38 chr1:159,712,443-159,712,443

HGVS

Type Transcript Protein
RefSeq NM_000567.2:c.*1082G>A
Ensemble ENST00000255030.9:c.*1082G>A
ENST00000368112.5:c.*374G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.679
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
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 tgv3467791 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance no assertion criteria provided Inflammation unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Mental Depression CRP gene variants were associated with serum levels in a gender-specific manner,... BeFree 25603415 Detail
0.070 Malignant neoplasm of breast Among premenopausal AA women, comparing variant allele carriers to non-carriers,... BeFree 23991131 Detail
<0.001 asthma CRP single nucleotide polymorphisms (SNPs) did not increase the risk of asthma, ... BeFree 21790705 Detail
0.024 colon carcinoma The strongest association for the rs1205 polymorphism and colon cancer was obser... BeFree 20949557 Detail
<0.001 depressive disorder CRP gene variants were associated with serum levels in a gender-specific manner,... BeFree 25603415 Detail
<0.001 Chronic Obstructive Airway Disease Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs224... BeFree 23267696 Detail
0.244 Chronic Obstructive Airway Disease Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs224... BeFree 23267696 Detail
<0.001 Malignant neoplasm of breast Among premenopausal AA women, comparing variant allele carriers to non-carriers,... BeFree 23991131 Detail
0.028 breast carcinoma Among premenopausal AA women, comparing variant allele carriers to non-carriers,... BeFree 23991131 Detail
0.001 breast carcinoma Among premenopausal AA women, comparing variant allele carriers to non-carriers,... BeFree 23991131 Detail
<0.001 Rectal Neoplasms The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ r... BeFree 20949557 Detail
<0.001 breast carcinoma Among premenopausal AA women, comparing variant allele carriers to non-carriers,... BeFree 23991131 Detail
0.025 Malignant tumor of colon The strongest association for the rs1205 polymorphism and colon cancer was obser... BeFree 20949557 Detail
<0.001 Rectal Tumors The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ r... BeFree 20949557 Detail
<0.001 Malignant neoplasm of breast Among premenopausal AA women, comparing variant allele carriers to non-carriers,... BeFree 23991131 Detail
<0.001 Malignant tumor of colon The CRP rs1205 AA genotype was associated with an increased risk of colon cancer... BeFree 20949557 Detail
<0.001 colon carcinoma The CRP rs1205 AA genotype was associated with an increased risk of colon cancer... BeFree 20949557 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
NM_000567.3(CRP):c.*1082G>A AND Inflammation ClinVar Detail
CRP gene variants were associated with serum levels in a gender-specific manner, but only rs1205 was... DisGeNET Detail
Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast canc... DisGeNET Detail
CRP single nucleotide polymorphisms (SNPs) did not increase the risk of asthma, but CRP rs1205 CC ge... DisGeNET Detail
The strongest association for the rs1205 polymorphism and colon cancer was observed among those with... DisGeNET Detail
CRP gene variants were associated with serum levels in a gender-specific manner, but only rs1205 was... DisGeNET Detail
Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), ... DisGeNET Detail
Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), ... DisGeNET Detail
Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast canc... DisGeNET Detail
Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast canc... DisGeNET Detail
Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast canc... DisGeNET Detail
The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ rectal tumors (OR 2.5... DisGeNET Detail
Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast canc... DisGeNET Detail
The strongest association for the rs1205 polymorphism and colon cancer was observed among those with... DisGeNET Detail
The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ rectal tumors (OR 2.5... DisGeNET Detail
Among premenopausal AA women, comparing variant allele carriers to non-carriers, reduced breast canc... DisGeNET Detail
The CRP rs1205 AA genotype was associated with an increased risk of colon cancer (OR 1.3, 95%CI 1.1-... DisGeNET Detail
The CRP rs1205 AA genotype was associated with an increased risk of colon cancer (OR 1.3, 95%CI 1.1-... 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
-
dbSNP
rs1205 dbSNP
Genome
hg38
Position
chr1:159,712,443-159,712,443
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1205
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6787
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11375
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser