chr6:151592978:G>A Detail (hg38) (CCDC170)

Information

Genome

Assembly Position
hg19 chr6:151,914,113-151,914,113 View the variant detail on this assembly version.
hg38 chr6:151,592,978-151,592,978

HGVS

Type Transcript Protein
RefSeq NM_025059.3:c.1294-129G>A
Ensemble ENST00000239374.8:c.1294-129G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.219
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
HGNC 21177 HGNC
Ensembl ENSG00000120262 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27490006 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 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
<0.001 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.120 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.080 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.002 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.122 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
<0.001 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.240 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.080 breast carcinoma For the first time, rs3757318 at 6q25.1, located next to the gene encoding estro... BeFree 23486537 Detail
0.121 Nasopharyngeal carcinoma Three SNPs (rs401681, rs6774494 and rs3757318) corresponding to TERT/CLPTM1L (OR... BeFree 24615621 Detail
0.123 Malignant neoplasm of breast Current evidence on the association between rs3757318 of C6orf97 and breast canc... BeFree 25338983 Detail
0.240 Malignant neoplasm of breast For the first time, rs3757318 at 6q25.1, located next to the gene encoding estro... BeFree 23486537 Detail
0.123 Malignant neoplasm of breast Large-scale genotyping identifies 41 new loci associated with breast cancer risk... GWASCAT 23535729 Detail
<0.001 breast carcinoma Current evidence on the association between rs3757318 of C6orf97 and breast canc... BeFree 25338983 Detail
<0.001 Nasopharyngeal carcinoma Three SNPs (rs401681, rs6774494 and rs3757318) corresponding to TERT/CLPTM1L (OR... BeFree 24615621 Detail
Annotation

Annotations

DescrptionSourceLinks
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
For the first time, rs3757318 at 6q25.1, located next to the gene encoding estrogen receptor α (ESR1... DisGeNET Detail
Three SNPs (rs401681, rs6774494 and rs3757318) corresponding to TERT/CLPTM1L (OR 95% CI = 0.77, 0.68... DisGeNET Detail
Current evidence on the association between rs3757318 of C6orf97 and breast cancer risk: a meta-anal... DisGeNET Detail
For the first time, rs3757318 at 6q25.1, located next to the gene encoding estrogen receptor α (ESR1... DisGeNET Detail
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. DisGeNET Detail
Current evidence on the association between rs3757318 of C6orf97 and breast cancer risk: a meta-anal... DisGeNET Detail
Three SNPs (rs401681, rs6774494 and rs3757318) corresponding to TERT/CLPTM1L (OR 95% CI = 0.77, 0.68... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3757318 dbSNP
Genome
hg38
Position
chr6:151,592,978-151,592,978
Variant Type
snv
Reference Allele
G
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))
rs3757318
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2193
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3675
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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