chr6:167024500:C>T Detail (hg38) (CEP43)

Information

Genome

Assembly Position
hg19 chr6:167,437,988-167,437,988 View the variant detail on this assembly version.
hg38 chr6:167,024,500-167,024,500

HGVS

Type Transcript Protein
RefSeq NM_194429.1:c.747-282C>T
NM_007045.3:c.807-282C>T
NM_001278690.1:c.666-282C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.427
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 605392 OMIM
HGNC 17012 HGNC
Ensembl ENSG00000213066 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27863752 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
0.127 Crohn Disease Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disea... GWASCAT 20570966 Detail
0.127 Crohn Disease [Genome-wide association defines more than 30 distinct susceptibility loci for C... GAD 18587394 Detail
0.127 Crohn Disease [Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn\'s dis... GAD 20570966 Detail
0.008 Crohn Disease [Genome-wide association defines more than 30 distinct susceptibility loci for C... GAD 18587394 Detail
0.127 Crohn Disease Genome-wide association defines more than 30 distinct susceptibility loci for Cr... GWASCAT 18587394 Detail
0.001 ulcerative colitis Here, we studied the susceptibility nature of three components of IL23 signallin... BeFree 22269120 Detail
Annotation

Annotations

DescrptionSourceLinks
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. DisGeNET Detail
[Genome-wide association defines more than 30 distinct susceptibility loci for Crohn\'s disease.] DisGeNET Detail
[Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn\'s disease.] DisGeNET Detail
[Genome-wide association defines more than 30 distinct susceptibility loci for Crohn\'s disease.] DisGeNET Detail
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. DisGeNET Detail
Here, we studied the susceptibility nature of three components of IL23 signalling and Th17 cell diff... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2301436 dbSNP
Genome
hg38
Position
chr6:167,024,500-167,024,500
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))
rs2301436
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4268
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7153
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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