rs4784227

This variant is located in the CASC16 gene.

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GWAS Catalog Trait Associations (9)

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 T
OR 1.24
p 2.0e-240
N 277,932
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.23
p 2.0e-14
N 631,578
Major Consortium StudyLarge GWAS
multi-ancestry
Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)
Allele T
OR 1.27
p 8.0e-82
N 428,231
Large GWAS
European
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele T
OR 1.23
p 7.0e-201
N 139,274
Large GWAS
multi-ancestry
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele T
OR 1.25
p 4.0e-21
N 95,283
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.25
p 1.0e-28
N 79,550
Large GWAS
East Asian
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 T
OR 1.26
p 2.0e-20
N 75,775
Large GWAS
East Asian
Low SK et al. “Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population.” Scientific Reports 9(1):17332 (2019)
Allele T
OR 1.27
p 2.0e-24
N 28,599
Large GWAS
East Asian
Fejerman L et al. “Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.” Nature Communications 5:5260 (2014)
Allele T
OR 1.38
p 3.0e-9
N 4,710
Large GWAS
Hispanic or Latin American
Long J et al. “Identification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia Breast Cancer Consortium.” Plos Genetics 6(6):e1001002 (2010)
Allele T
OR 1.24
p 1.0e-28
N 4,157
Major Consortium StudyLarge GWAS
multi-ancestry

breast cancer

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.25
p 5.0e-50
N 175,905
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.23
p 1.0e-46
N 394,626
Large GWAS
European
Jia G et al. “Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.” Nature Genetics 56(5):819-826 (2024)
Allele T
OR 1.26
p 1.0e-12
N 40,138
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

estrogen-receptor negative breast cancer

Milne RL et al. “Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.” Nature Genetics 49(12):1767-1778 (2017)
Allele T
OR 1.14
p 2.0e-26
N 72,261
Large GWAS
European

family history of breast cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.10
p 2.0e-25
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

estrogen-receptor positive breast cancer

Jia G et al. “Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.” Nature Genetics 56(5):819-826 (2024)
Allele T
OR 1.33
p 1.0e-13
N 28,328
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

Parkinson disease

Chang D et al. “A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.” Nature Genetics 49(10):1511-1516 (2017)
Allele T
OR 1.09
p 1.0e-10
N 417,508
Meta-analysisLarge GWAS
European

systolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.18
p 1.0e-9
N 810,865
Meta-analysisLarge GWAS
European

pulse pressure measurement

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.09
p 2.0e-8
N 1,317,884
Meta-analysisLarge GWAS
multi-ancestry

BRCAX breast cancer

Lee JY et al. “BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts.” Scientific Reports 8(1):15263 (2018)
Allele T
OR 1.31
p 9.0e-9
N 7,448
Large GWAS
East Asian
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Research that mentions this SNP (4)

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Association of polymorphisms in LOC105377871 and CASC16 with breast cancer in the northwest Chinese Han population
AssociationN=1,006Yao Sun et al.(2020)· The Journal of Gene Medicine

A case-control study of 503 breast cancer patients and 503 healthy controls in northwest Chinese Han population found that rs17530068 (LOC105377871) increases breast cancer risk (p=0.047, OR=1.23, 95% CI=1.00-1.50 in log-additive model), and rs4784227 (CASC16) significantly increases risk of lymph node metastasis in breast cancer patients (p=0.025, OR=1.51, 95% CI=1.05-2.17 for allele model; p=0.008, OR=1.99, 95% CI=1.20-3.31 in codominant model).

Traits studied:Breast cancerLymph node metastasis
PubMedDOIMetascience Observatory
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Integrative functional genomics identifies regulatory genetic variant modulating RAB31 expression and altering susceptibility to breast cancer
AssociationN=4,546Yi Zhang et al.(2018)· Molecular Carcinogenesis

A two-stage case-control study (2,164 cases, 2,382 controls) identified rs6506689 G>T as a breast cancer susceptibility variant with OR = 1.23 (95% CI = 1.07–1.40, P = 0.003) in combined analysis. Functional assays demonstrated that the T allele creates a FOXA1-binding site and upregulates RAB31 expression, implicating this regulatory variant in breast cancer development.

Traits studied:Breast cancerEstrogen receptor-negative breast cancerEstrogen receptor-positive breast cancerProgesterone receptor-negative breast cancerProgesterone receptor-positive breast cancer
PubMedDOIMetascience Observatory
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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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Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation
AssociationN=1,467Erica S. Rinella et al.(2013)· Human Genetics

Genome-wide association study of Ashkenazi Jewish women with familial breast cancer but no BRCA1/2 mutations identified 7 novel SNPs and confirmed 6 known variants. A 7-marker risk model including rs17663555, rs566164, rs11075884, FGFR2 haplotype (rs11200014, rs2981579, rs1078806, rs1219648, rs2420946, rs2981582), rs13387042, rs2046210 (ESR1), and rs3112612 (TOX3) achieved moderate discriminatory accuracy (AUC=0.74; 95% CI: 0.69-0.79) for predicting familial breast cancer risk in this population.

Traits studied:Breast cancerFamilial breast cancer
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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