chr9:21988896:C>T Detail (hg19) (CDKN2A)

Information

Genome

Assembly Position
hg19 chr9:21,988,896-21,988,896
hg38 chr9:21,988,897-21,988,897 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_058195.3:c.193+5242G>A
Ensemble ENST00000494262.5:c.-4+4985G>A
ENST00000498628.6:c.-4+5924G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.984
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 600160 OMIM
HGNC 1787 HGNC
Ensembl ENSG00000147889 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35781294 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
0.322 Diabetes Mellitus, Non-Insulin-Dependent The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six varia... BeFree 20384434 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six varia... BeFree 20384434 Detail
0.010 Impaired glucose tolerance The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six varia... BeFree 20384434 Detail
0.002 Glucose Metabolism Disorders [Our results suggest that combining genetic markers with traditional clinical ri... GAD 20384434 Detail
<0.001 Impaired glucose tolerance The analyses showed that age (P &lt; 0.0001), BMI (P &lt; 0.0001), and six varia... BeFree 20384434 Detail
Annotation

Annotations

DescrptionSourceLinks
The analyses showed that age (P &lt; 0.0001), BMI (P &lt; 0.0001), and six variants (IGF2BP2 rs44029... DisGeNET Detail
The analyses showed that age (P &lt; 0.0001), BMI (P &lt; 0.0001), and six variants (IGF2BP2 rs44029... DisGeNET Detail
The analyses showed that age (P &lt; 0.0001), BMI (P &lt; 0.0001), and six variants (IGF2BP2 rs44029... DisGeNET Detail
[Our results suggest that combining genetic markers with traditional clinical risk factors has the p... DisGeNET Detail
The analyses showed that age (P &lt; 0.0001), BMI (P &lt; 0.0001), and six variants (IGF2BP2 rs44029... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3731201 dbSNP
Genome
hg19
Position
chr9:21,988,896-21,988,896
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))
rs3731201
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.984
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16492
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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