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
RS104894206 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Haim-Munk syndrome
RS104894207 CTSC Health Risk Pathogenic/Likely pathogenic Papillon-Lefèvre syndrome, Periodontitis
RS104894208 CTSC Health Risk Conflicting classifications of pathogenicity Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS104894209 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Periodontitis
RS104894210 CTSC Health Risk Likely pathogenic Papillon-Lefèvre syndrome, Haim-Munk syndrome
RS104894211 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS104894212 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS104894213 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS104894214 CTSC Health Risk Pathogenic/Likely pathogenic Papillon-Lefèvre syndrome, Haim-Munk syndrome
RS104894215 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome
RS104894221 FANCF Health Risk Pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS104894222 FANCF Health Risk Pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS104894223 FZD4 Health Risk Conflicting classifications of pathogenicity Retinopathy of prematurity, FZD4-related disorder
RS104894226 HRAS Health Risk Pathogenic/Likely pathogenic Costello syndrome, RASopathy
RS104894227 HRAS Health Risk Pathogenic Costello syndrome, RASopathy
RS104894228 HRAS Health Risk Likely pathogenic Costello syndrome, RASopathy
RS104894229 HRAS Health Risk Likely pathogenic Costello syndrome, Myopathy
RS104894230 HRAS;LRRC56 Health Risk Pathogenic/Likely pathogenic Malignant tumor of urinary bladder, Costello syndrome
RS104894231 HRAS Health Risk Pathogenic Costello syndrome, Costello syndrome
RS104894232 DDX25;HYLS1;PUS3 Health Risk Pathogenic Hydrolethalus syndrome, Hydrolethalus syndrome 1
RS104894236 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS104894237 KCNJ11 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS104894244 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS104894245 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS104894246 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter syndrome
RS104894248 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS104894250 KCNJ1 Health Risk Pathogenic Bartter disease type 2, Bartter disease type 2
RS104894251 KCNJ1 Health Risk Pathogenic Bartter disease type 2, Bartter disease type 2
RS104894253 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter syndrome
RS104894254 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter syndrome
RS104894255 KCNQ1 Health Risk Pathogenic/Likely pathogenic Congenital long QT syndrome, Long QT syndrome
RS104894256 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS104894257 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS104894258 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS104894259 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS104894260 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS104894261 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS104894262 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS104894263 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS104894264 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS104894265 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS104894266 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS104894267 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS104894268 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS104894270 NDUFS3 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 8
RS104894271 PTH Health Risk Pathogenic Hypoparathyroidism, familial isolated 1
RS104894272 PTH Health Risk Pathogenic Hypoparathyroidism, familial isolated 1
RS104894273 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS104894274 PTS Health Risk Likely pathogenic Hyperphenylalaninemia, bh4-deficient
RS104894275 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder
RS104894276 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
RS104894277 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS104894278 PTS Health Risk Pathogenic Hyperphenylalaninemia, bh4-deficient
RS104894279 PTS Health Risk Conflicting classifications of pathogenicity Hyperphenylalaninemia, bh4-deficient
RS104894280 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS104894281 NECTIN1 Health Risk Pathogenic Cleft lip/palate-ectodermal dysplasia syndrome, Orofacial cleft 7
RS104894282 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, B cell-negative
RS104894283 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, B cell-negative
RS104894284 RAG1 Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Combined immunodeficiency with skin granulomas
RS104894285 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, B cell-negative
RS104894286 RAG1 Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Inherited Immunodeficiency Diseases
RS104894287 RAG1 Health Risk Pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency
RS104894288 RAG1 Health Risk Pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS104894289 RAG1 Health Risk Pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS104894290 RAG1 Health Risk Pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS104894291 RAG1 Health Risk Pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS104894292 RAG1 Health Risk Pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS104894293 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Global developmental delay
RS104894294 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Myopathy
RS104894295 SC5D Health Risk Likely pathogenic Lathosterolosis, Lathosterolosis
RS104894296 SC5D Health Risk Likely pathogenic Lathosterolosis, Lathosterolosis
RS104894297 SC5D Health Risk Pathogenic Lathosterolosis, Lathosterolosis
RS104894298 RAG1 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS104894299 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 11
RS104894300 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS104894301 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Congenital myasthenic syndrome 11
RS104894302 SDHD Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 1, Hereditary cancer-predisposing syndrome
RS104894303 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Hereditary cancer-predisposing syndrome
RS104894304 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Hereditary pheochromocytoma and paraganglioma
RS104894305 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Hereditary pheochromocytoma and paraganglioma
RS104894306 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma
RS104894307 SDHD Health Risk Pathogenic Paragangliomas with sensorineural hearing loss, Cowden syndrome 3
RS104894308 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Hereditary cancer-predisposing syndrome
RS104894309 SDHD Health Risk Pathogenic Pheochromocytoma, Hereditary cancer-predisposing syndrome
RS104894310 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss
RS104894311 TNNI2 Health Risk Pathogenic Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS104894312 TNNI2 Health Risk Pathogenic Distal arthrogryposis type 2B1, Calcaneovalgus deformity
RS104894313 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1B, Oculocutaneous albinism
RS104894314 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1B, Oculocutaneous albinism type 1A
RS104894315 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS104894316 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism
RS104894317 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism
RS104894318 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS104894319 UCP3 Health Risk Conflicting classifications of pathogenicity Obesity, severe
RS104894321 AICDA Health Risk Pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS104894322 AICDA Health Risk Pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS104894323 AICDA Health Risk Pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS104894324 AICDA Health Risk Pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS104894325 AICDA Health Risk Pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS104894326 AQP2 Health Risk Pathogenic/Likely pathogenic Nephrogenic diabetes insipidus, Diabetes insipidus
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