chr1:159714396:T>A Detail (hg38) (CRP)

Information

Genome

Assembly Position
hg19 chr1:159,684,186-159,684,186 View the variant detail on this assembly version.
hg38 chr1:159,714,396-159,714,396

HGVS

Type Transcript Protein
RefSeq NM_000567.2:c.61+29A>T
Ensemble ENST00000255030.9:c.61+29A>T
ENST00000368110.1:c.61+29A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.071
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.062

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 tgv3468007 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 Rectal Neoplasms The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ r... 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
Annotation

Annotations

DescrptionSourceLinks
The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ rectal tumors (OR 2.5... DisGeNET Detail
The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ rectal tumors (OR 2.5... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1417938 dbSNP
Genome
hg38
Position
chr1:159,714,396-159,714,396
Variant Type
snv
Reference Allele
T
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))
rs1417938
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0705
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1181
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
East Asian Chromosome Counts (ExAC)
8380
East Asian Allele Counts (ExAC)
522
East Asian Heterozygous Counts (ExAC)
466
East Asian Homozygous Counts (ExAC)
28
East Asian Allele Frequency (ExAC)
0.062291169451073984
Chromosome Counts in All Race (ExAC)
117460
Allele Counts in All Race (ExAC)
32664
Heterozygous Counts in All Race (ExAC)
22948
Homozygous Counts in All Race (ExAC)
4858
Allele Frequency in All Race (ExAC)
0.2780861569896135
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