chr6:20661034:A>C Detail (hg19) (CDKAL1)

Information

Genome

Assembly Position
hg19 chr6:20,661,034-20,661,034
hg38 chr6:20,660,803-20,660,803 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_017774.3:c.371+11426A>C
Ensemble ENST00000274695.8:c.371+11426A>C
ENST00000378610.1:c.371+11426A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.406
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 611259 OMIM
HGNC 21050 HGNC
Ensembl ENSG00000145996 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24490166 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2014-09-01 no assertion criteria provided type 2 diabetes mellitus germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.214 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent Taken together, our findings provide evidence for a significant contribution of ... BeFree 24012816 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent Genetic variants in CDKN2A/B, CDKAL1, TCF7L2, TCF2, MC4R, and PPARG showed a nom... BeFree 20161779 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.029 Diabetes Mellitus, Non-Insulin-Dependent Genetic variants in CDKN2A/B, CDKAL1, TCF7L2, TCF2, MC4R, and PPARG showed a nom... BeFree 20161779 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.004 Diabetes We showed association of the minor allele C of rs10946398 (Odds Ratio (OR) = 1.2... BeFree 21611789 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30... BeFree 24736664 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs50154... BeFree 20550665 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Replication of genome-wide association signals in UK samples reveals risk loci f... GWASCAT 17463249 Detail
0.015 diabetes mellitus We showed association of the minor allele C of rs10946398 (Odds Ratio (OR) = 1.2... BeFree 21611789 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility ob... GWASCAT 19056611 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30... BeFree 24736664 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30... BeFree 24736664 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_017774.3(CDKAL1):c.371+11426A>C AND Type 2 diabetes mellitus ClinVar Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
Taken together, our findings provide evidence for a significant contribution of CDKN2A/B gene rs1081... DisGeNET Detail
Genetic variants in CDKN2A/B, CDKAL1, TCF7L2, TCF2, MC4R, and PPARG showed a nominal association wit... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
Genetic variants in CDKN2A/B, CDKAL1, TCF7L2, TCF2, MC4R, and PPARG showed a nominal association wit... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
We showed association of the minor allele C of rs10946398 (Odds Ratio (OR) = 1.21, 95% CI = 1.04-1.4... DisGeNET Detail
Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30A8 (rs13266634), and... DisGeNET Detail
In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs5015480) in HHEX , one SN... DisGeNET Detail
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. DisGeNET Detail
We showed association of the minor allele C of rs10946398 (Odds Ratio (OR) = 1.21, 95% CI = 1.04-1.4... DisGeNET Detail
Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wid... DisGeNET Detail
Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30A8 (rs13266634), and... DisGeNET Detail
Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30A8 (rs13266634), and... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10946398 dbSNP
Genome
hg19
Position
chr6:20,661,034-20,661,034
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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))
rs10946398
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4063
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6809
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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