chr6:81418669:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr6:82,128,386-82,128,386 View the variant detail on this assembly version.
hg38 chr6:81,418,669-81,418,669

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.181
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Malignant neoplasm of breast Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
<0.001 breast carcinoma Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
0.120 Malignant neoplasm of breast Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
0.023 breast carcinoma Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
<0.001 breast carcinoma Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
0.043 Malignant neoplasm of breast Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... BeFree 23593120 Detail
Annotation

Annotations

DescrptionSourceLinks
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... DisGeNET Detail
Gene
-
dbSNP
rs17529111 dbSNP
Genome
hg38
Position
chr6:81,418,669-81,418,669
Variant Type
snv
Reference Allele
T
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))
rs17529111
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1805
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3025
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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