SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2548542545 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2548542577 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548542582 BRCA2 Health Risk Pathogenic Colorectal cancer, Hereditary cancer-predisposing syndrome
RS2548542600 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548542639 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548542647 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2548542675 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548542808 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548542811 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548543775 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS2548543877 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548543947 UBE3B Health Risk Likely pathogenic —
RS2548544025 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548545122 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548545270 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548545288 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548545315 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548545378 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548545474 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548545515 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548545568 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548545571 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548545616 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548545630 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548545639 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548546263 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548546277 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548546346 BRCA2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS2548546368 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, BRCA2-related cancer predisposition
RS2548546395 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548546405 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548546440 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548546479 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548546502 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548546541 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548546554 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548546556 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548546588 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548546640 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548546675 BRCA2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS2548546801 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548546805 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548546813 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548546894 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2548546912 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548546933 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548546994 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548547119 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2548547487 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548549956 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2548550008 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2548550009 BRCA2 Health Risk Likely pathogenic —
RS2548550023 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548550041 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2548550068 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2548550087 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2548550133 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548550215 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548550228 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548550544 ATP2A2 Health Risk Pathogenic —
RS2548550584 ATP2A2 Health Risk Likely pathogenic —
RS2548550710 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548550839 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2548550872 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2548550907 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548550913 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548553008 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548553097 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548553100 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548553142 BRCA2 Health Risk Pathogenic —
RS2548553163 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548553260 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548553272 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548553281 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548553303 BRCA2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2548553313 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548553373 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548553381 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548553389 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548553435 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548553549 ATP2A2 Health Risk Pathogenic —
RS2548553628 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548553723 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548553879 ATP2A2 Health Risk Likely pathogenic Keratosis follicularis, Keratosis follicularis
RS2548553884 ATP2A2 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS2548554072 DMXL2 Health Risk Pathogenic —
RS2548554154 DMXL2 Health Risk Pathogenic —
RS2548554880 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548554885 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548554921 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548554972 TSC2 Health Risk Pathogenic —
RS2548554986 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548555054 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548555141 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548555143 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2548555180 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548555185 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548555258 BRCA2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2548555270 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548555282 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
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