rs4973768

This is a 3 prime utr variant variant in the SLC4A7 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

breast carcinoma

Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele C
OR 1.10
p 5.0e-62
N 277,932
Large GWAS
multi-ancestry
Sato G et al. “Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis.” Nature Communications 14(1):3671 (2023)
Allele C
OR 1.10
p 2.0e-14
N 197,244
Large GWAS
European
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele C
OR 1.11
p 5.0e-57
N 139,274
Large GWAS
multi-ancestry
Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)
Allele C
OR 1.10
p 3.0e-30
N 33,832
Large GWAS
European
Michailidou K et al. “Large-scale genotyping identifies 41 new loci associated with breast cancer risk.” Nature Genetics 45(4):353-61, 361e1-2 (2013)
Allele C
OR 1.10
p 2.0e-30
N 22,627
Large GWAS
European
Fletcher O et al. “Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.” Journal of the National Cancer Institute 103(5):425-35 (2011)
Allele C
OR 1.14
p 2.0e-8
N 6,346
Large GWAS
European
Ahmed S et al. “Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.” Nature Genetics 41(5):585-90 (2009)
Allele C
OR 1.11
p 4.0e-23
N 754
Small GWAS
multi-ancestry
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Research that mentions this SNP (4)

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Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status
AssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Traits studied:Breast cancerBreast cancer riskER+/PR+ breast cancerER/PR negative breast cancerTriple negative breast cancer
PubMedDOIMetascience Observatory
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Incidence of Breast Cancer and Its Subtypes in Relation to Individual and Multiple Low-Penetrance Genetic Susceptibility Loci
AssociationN=2,791Gillian K. Reeves et al.(2010)· JAMA

Population-based case-control study of 1,484 breast cancer cases and 1,307 controls examining 13 GWAS-identified SNPs for breast cancer susceptibility. Confirmed associations for 7 SNPs (rs13387042, rs4973768, rs10941679, rs2981582, rs3817198, rs3803662, rs6504950), with women in the highest quintile of a polygenic risk score having 2.2-fold increased breast cancer risk (95% CI: 1.67-2.88) compared to the lowest quintile. No significant interactions were detected between genetic loci and reproductive/menstrual risk factors.

Traits studied:Breast cancer
PubMedDOIMetascience Observatory
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Correcting “winner's curse” in odds ratios from genomewide association findings for major complex human diseases
MethodsHua Zhong et al.(2010)· Genetic Epidemiology

This paper applies a bias correction method for odds ratio estimates from GWAS discovery data, demonstrating that the 'winner's curse' affects initial effect size estimates. The authors applied conditional maximum likelihood estimation to correct bias in GWAS findings from multiple complex diseases (breast cancer, colorectal cancer, lung cancer, prostate cancer, type I and II diabetes) and show that bias-adjusted odds ratios are substantially more consistent with subsequent replication studies, with selection-adjusted confidence intervals providing better uncertainty quantification than uncorrected estimates.

Traits studied:Breast cancerColorectal cancerLung cancerProstate cancerType I diabetesType II diabetes
PubMedDOIMetascience Observatory
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Evaluation of SNPs inmiR-146a,miR196a2andmiR-499as low-penetrance alleles in German and Italian familial breast cancer cases
AssociationN=1,800Irene Catucci et al.(2010)· Human Mutation

This PhD thesis presents a comprehensive study of microRNA (miRNA) SNPs and their association with breast cancer risk in Australian Caucasian populations. The study identified three key findings: rs2910164 in MIR146A showed significant association (p=0.03 and p=0.00013 in two populations); rs353291 in MIR145 showed significant differences in allele frequencies (p=0.041 and p=0.023); and rs4284505/rs7336610 in the MIR17HG cluster showed significant association with protective effect (OR=0.75, 95% CI: 0.60-0.94, p=0.012).

Traits studied:Breast cancerBreast cancer risk
PubMedDOIMetascience Observatory

About SLC4A7

This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

View all SLC4A7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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