chr6:20694884:C>T Detail (hg19) (CDKAL1)

Information

Genome

Assembly Position
hg19 chr6:20,694,884-20,694,884
hg38 chr6:20,694,653-20,694,653 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_017774.3:c.372-44866C>T
Ensemble ENST00000274695.8:c.372-44866C>T
ENST00000378610.1:c.372-44866C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.398
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 611259 OMIM
HGNC 21050 HGNC
Ensembl ENSG00000145996 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24490725 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
0.004 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
0.003 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2206734 dbSNP
Genome
hg19
Position
chr6:20,694,884-20,694,884
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))
rs2206734
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3984
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6678
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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