chr6:151627231:G>A Detail (hg38) (CCDC170)

Information

Genome

Assembly Position
hg19 chr6:151,948,366-151,948,366 View the variant detail on this assembly version.
hg38 chr6:151,627,231-151,627,231

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.286
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-03-01 no assertion criteria provided Estrogen resistance syndrome somatic Detail
Benign 2020-10-28 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.132 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.024 Triple Negative Breast Neoplasms We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), r... BeFree 21844186 Detail
<0.001 Triple Negative Breast Neoplasms We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), r... BeFree 21844186 Detail
<0.001 Triple Negative Breast Neoplasms We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), r... BeFree 21844186 Detail
0.001 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.001 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.003 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.123 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.240 Malignant neoplasm of breast When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed st... BeFree 25228414 Detail
0.080 breast carcinoma When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed st... BeFree 25228414 Detail
0.240 Malignant neoplasm of breast In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-... BeFree 22053997 Detail
0.240 Malignant neoplasm of breast Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have b... BeFree 21593217 Detail
0.080 breast carcinoma In Japanese women, rs2046210 and 3757318 located near the ESR1 gene are associat... BeFree 24289300 Detail
0.240 Malignant neoplasm of breast In Japanese women, rs2046210 and 3757318 located near the ESR1 gene are associat... BeFree 24289300 Detail
0.240 Malignant neoplasm of breast SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor... BeFree 19219042 Detail
0.080 breast carcinoma SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor... BeFree 19219042 Detail
<0.001 Malignant neoplasm of male breast By multivariate logistic regression models, we found a significant increased MBC... BeFree 23468243 Detail
<0.001 Carcinoma of male breast By multivariate logistic regression models, we found a significant increased MBC... BeFree 23468243 Detail
<0.001 Malignant neoplasm of male breast By multivariate logistic regression models, we found a significant increased MBC... BeFree 23468243 Detail
0.080 breast carcinoma In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-... BeFree 22053997 Detail
0.123 Malignant neoplasm of breast [Genome-wide association study identifies a new breast cancer susceptibility loc... GAD 19219042 Detail
0.017 uterine corpus cancer Given that endometrial cancer shares many risk factors with breast cancer and bo... BeFree 21272446 Detail
0.240 Malignant neoplasm of breast Given that endometrial cancer shares many risk factors with breast cancer and bo... BeFree 21272446 Detail
0.032 endometrial carcinoma Given that endometrial cancer shares many risk factors with breast cancer and bo... BeFree 21272446 Detail
0.017 Malignant neoplasm of endometrium Given that endometrial cancer shares many risk factors with breast cancer and bo... BeFree 21272446 Detail
0.080 breast carcinoma Given that endometrial cancer shares many risk factors with breast cancer and bo... BeFree 21272446 Detail
0.080 breast carcinoma Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have b... BeFree 21593217 Detail
<0.001 Carcinoma of male breast By multivariate logistic regression models, we found a significant increased MBC... BeFree 23468243 Detail
0.010 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.006 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.166 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.031 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.230 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.170 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.240 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.080 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
<0.001 Breast Cancer, Familial Seven of the 19 markers were significant in a multivariate predictive model of f... BeFree 23354978 Detail
<0.001 Breast Cancer, Familial Seven of the 19 markers were significant in a multivariate predictive model of f... BeFree 23354978 Detail
0.122 Breast Cancer, Familial Seven of the 19 markers were significant in a multivariate predictive model of f... BeFree 23354978 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000006.12:g.151627231G>A AND Estrogen resistance syndrome ClinVar Detail
NC_000006.12:g.151627231G>A AND not specified ClinVar Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs... DisGeNET Detail
We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs... DisGeNET Detail
We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations ... DisGeNET Detail
When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations ... DisGeNET Detail
In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast canc... DisGeNET Detail
Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in th... DisGeNET Detail
In Japanese women, rs2046210 and 3757318 located near the ESR1 gene are associated with a risk of br... DisGeNET Detail
In Japanese women, rs2046210 and 3757318 located near the ESR1 gene are associated with a risk of br... DisGeNET Detail
SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor alpha (ESR1), showe... DisGeNET Detail
SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor alpha (ESR1), showe... DisGeNET Detail
By multivariate logistic regression models, we found a significant increased MBC risk for 3 SNPs, in... DisGeNET Detail
By multivariate logistic regression models, we found a significant increased MBC risk for 3 SNPs, in... DisGeNET Detail
By multivariate logistic regression models, we found a significant increased MBC risk for 3 SNPs, in... DisGeNET Detail
In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast canc... DisGeNET Detail
[Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.] DisGeNET Detail
Given that endometrial cancer shares many risk factors with breast cancer and both are related to es... DisGeNET Detail
Given that endometrial cancer shares many risk factors with breast cancer and both are related to es... DisGeNET Detail
Given that endometrial cancer shares many risk factors with breast cancer and both are related to es... DisGeNET Detail
Given that endometrial cancer shares many risk factors with breast cancer and both are related to es... DisGeNET Detail
Given that endometrial cancer shares many risk factors with breast cancer and both are related to es... DisGeNET Detail
Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in th... DisGeNET Detail
By multivariate logistic regression models, we found a significant increased MBC risk for 3 SNPs, in... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... DisGeNET Detail
Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... DisGeNET Detail
Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... DisGeNET Detail
Gene
-
dbSNP
rs2046210 dbSNP
Genome
hg38
Position
chr6:151,627,231-151,627,231
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))
rs2046210
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2859
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4792
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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