chr6:36676609:C>A Detail (hg38) (CDKN1A)

Information

Genome

Assembly Position
hg19 chr6:36,644,386-36,644,386 View the variant detail on this assembly version.
hg38 chr6:36,676,609-36,676,609

HGVS

Type Transcript Protein
RefSeq NM_001291549.1:c.-38+85C>A
NM_078467.2:c.-38+85C>A
NM_001220777.1:c.-6+85C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.481
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 116899 OMIM
HGNC 1784 HGNC
Ensembl ENSG00000124762 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24980768 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
<0.001 multiple myeloma In our retrospective study, we analyzed candidate single-nucleotide polymorphism... BeFree 21859556 Detail
Annotation

Annotations

DescrptionSourceLinks
In our retrospective study, we analyzed candidate single-nucleotide polymorphisms (SNP), CINP (rs701... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3829963 dbSNP
Genome
hg38
Position
chr6:36,676,609-36,676,609
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs3829963
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.481
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8062
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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