chr6:36684562:C>G Detail (hg38) (CDKN1A)

Information

Genome

Assembly Position
hg19 chr6:36,652,339-36,652,339 View the variant detail on this assembly version.
hg38 chr6:36,684,562-36,684,562

HGVS

Type Transcript Protein
RefSeq NM_001220778.1:c.445+16C>G
NM_001291549.1:c.445+16C>G
NM_078467.2:c.445+16C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.654
ToMMo:0.646
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.596

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 tgv24981103 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 esophageal carcinoma p21 rs3176352 G&gt;C and p73 rs1801173 C&gt;T polymorphisms are associated with ... BeFree 24820515 Detail
0.001 Malignant neoplasm of esophagus p21 rs3176352 G&gt;C and p73 rs1801173 C&gt;T polymorphisms are associated with ... BeFree 24820515 Detail
<0.001 Esophageal Neoplasms p21 rs3176352 G&gt;C and p73 rs1801173 C&gt;T polymorphisms are associated with ... BeFree 24820515 Detail
<0.001 Squamous cell carcinoma of esophagus p21 rs3176352 G&gt;C and p73 rs1801173 C&gt;T SNPs are associated with increased... BeFree 24820515 Detail
<0.001 cervix carcinoma The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs105... BeFree 23231583 Detail
<0.001 Malignant tumor of cervix The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs105... BeFree 23231583 Detail
Annotation

Annotations

DescrptionSourceLinks
p21 rs3176352 G&gt;C and p73 rs1801173 C&gt;T polymorphisms are associated with an increased risk of... DisGeNET Detail
p21 rs3176352 G&gt;C and p73 rs1801173 C&gt;T polymorphisms are associated with an increased risk of... DisGeNET Detail
p21 rs3176352 G&gt;C and p73 rs1801173 C&gt;T polymorphisms are associated with an increased risk of... DisGeNET Detail
p21 rs3176352 G&gt;C and p73 rs1801173 C&gt;T SNPs are associated with increased risk of ESCC. DisGeNET Detail
The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs1059234) also provided ... DisGeNET Detail
The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs1059234) also provided ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr6:36,684,562-36,684,562
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
833
Mean of sample read depth (HGVD)
62.14
Standard deviation of sample read depth (HGVD)
29.30
Number of reference allele (HGVD)
577
Number of alternative allele (HGVD)
1089
Allele Frequency (HGVD)
0.6536614645858343
Gene Symbol (HGVD)
CDKN1A
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))
rs3176352
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6459
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10825
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8542
East Asian Allele Counts (ExAC)
5095
East Asian Heterozygous Counts (ExAC)
2022
East Asian Homozygous Counts (ExAC)
1536
East Asian Allele Frequency (ExAC)
0.5964645282135331
Chromosome Counts in All Race (ExAC)
119548
Allele Counts in All Race (ExAC)
43833
Heterozygous Counts in All Race (ExAC)
25484
Homozygous Counts in All Race (ExAC)
9174
Allele Frequency in All Race (ExAC)
0.36665607120152577
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