chr6:20703721:A>G Detail (hg38) (CDKAL1)

Information

Genome

Assembly Position
hg19 chr6:20,703,952-20,703,952 View the variant detail on this assembly version.
hg38 chr6:20,703,721-20,703,721

HGVS

Type Transcript Protein
RefSeq NM_017774.3:c.372-35798A>G
Ensemble ENST00000274695.8:c.372-35798A>G
ENST00000378610.1:c.372-35798A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.461
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 tgv24490868 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
0.003 Diabetes Mellitus, Non-Insulin-Dependent Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... BeFree 20580033 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... BeFree 20580033 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... BeFree 20580033 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... BeFree 20580033 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Meta-analysis of genome-wide association data and large-scale replication identi... GWASCAT 18372903 Detail
Annotation

Annotations

DescrptionSourceLinks
Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... DisGeNET Detail
Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... DisGeNET Detail
Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... DisGeNET Detail
Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... DisGeNET Detail
Meta-analysis of genome-wide association data and large-scale replication identifies additional susc... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6931514 dbSNP
Genome
hg38
Position
chr6:20,703,721-20,703,721
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs6931514
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4609
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7724
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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