SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS8192605 POMC Health Risk Conflicting classifications of pathogenicity Obesity due to pro-opiomelanocortin deficiency, Obesity
RS8192606 POMC Health Risk Conflicting classifications of pathogenicity Obesity due to pro-opiomelanocortin deficiency, Obesity
RS8192683 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS8192690 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS8192833 TBXAS1 Health Risk Conflicting classifications of pathogenicity —
RS8193031 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, TGM1-related disorder
RS832032 GABRR3 Health Risk Likely risk allele Restless legs, Restless legs
RS863223276 IYD Health Risk Conflicting classifications of pathogenicity Iodotyrosine deiodination defect, IYD-related disorder
RS863223277 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10
RS863223279 SMC3 Health Risk Pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS863223280 CFC1 Health Risk Pathogenic Heterotaxy, visceral
RS863223281 TRIP11 Health Risk Likely pathogenic Achondrogenesis, type IA
RS863223282 GPC6 Health Risk Pathogenic Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
RS863223283 SGCE Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS863223284 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS863223285 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS863223286 CCN6 Health Risk Pathogenic/Likely pathogenic Progressive pseudorheumatoid dysplasia, CCN6-related disorder
RS863223287 BMPR1B Health Risk Pathogenic Acromesomelic dysplasia 3, Acromesomelic dysplasia 3
RS863223288 TNFSF11 Health Risk Pathogenic Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
RS863223289 ROR2 Health Risk Pathogenic Brachydactyly type B1, Brachydactyly type B1
RS863223290 ROR2 Health Risk Pathogenic Brachydactyly type B1, Robinow syndrome
RS863223291 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS863223292 ROR2 Health Risk Pathogenic Brachydactyly type B1, Brachydactyly type B1
RS863223293 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency 1
RS863223294 CACNA1F Health Risk Pathogenic X-linked cone-rod dystrophy 3, X-linked cone-rod dystrophy 3
RS863223295 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS863223296 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS863223297 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS863223298 FLNA Health Risk Pathogenic Otopalatodigital syndrome spectrum disorder, Otopalatodigital syndrome spectrum disorder
RS863223299 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS863223301 TP53 Health Risk Pathogenic Choroid plexus papilloma, Bone osteosarcoma
RS863223302 SPTB Health Risk Pathogenic Elliptocytosis 3, Elliptocytosis 3
RS863223303 SPTB Health Risk Pathogenic Elliptocytosis 3, Elliptocytosis 3
RS863223304 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS863223305 SPTA1 Health Risk Pathogenic Elliptocytosis 2, Elliptocytosis 2
RS863223306 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS863223307 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Idiopathic growth hormone deficiency
RS863223308 GH1 Health Risk Pathogenic Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS863223309 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS863223310 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS863223311 MEN1 Health Risk Pathogenic Hyperparathyroidism 1, Hereditary cancer-predisposing syndrome
RS863223312 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS863223314 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS863223315 ALDH18A1 Health Risk Pathogenic ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome
RS863223316 SLC33A1 Health Risk Pathogenic Huppke-Brendel syndrome, Huppke-Brendel syndrome
RS863223317 SMOC1 Health Risk Pathogenic Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
RS863223318 ANKRD26 Health Risk Pathogenic/Likely pathogenic Thrombocytopenia 2, Thrombocytopenia
RS863223319 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS863223320 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS863223321 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS863223322 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS863223324 TINF2 Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 3
RS863223325 DRC2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia
RS863223326 LBR Health Risk Pathogenic Pelger-Huët anomaly, Greenberg dysplasia
RS863223330 SIX1 Health Risk Likely pathogenic Branchiootic syndrome 3, Branchiootic syndrome 3
RS863223331 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS863223335 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 1
RS863223336 RTEL1 Health Risk Pathogenic/Likely risk allele Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS863223338 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS863223339 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS863223340 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS863223341 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 8
RS863223342 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS863223343 PANK2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS863223344 PCARE Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS863223345 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS863223346 FREM2 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223347 SEZ6 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223348 GALNT4;POC1B;POC1B-DUSP6;POC1B-GALNT4 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223349 ITGA6 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223350 GTF2IRD1 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223351 STAC2 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223352 ARL16 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223353 MEST Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223354 RYR2 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223355 RYR2 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223356 RELA Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS863223361 DYNC1H1 Health Risk Likely pathogenic Abnormality of neuronal migration, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS863223377 WDR62 Health Risk Pathogenic Abnormality of neuronal migration, Abnormality of neuronal migration
RS863223396 WDR73 Health Risk Likely pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS863223398 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS863223401 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy type 6
RS863223402 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS863223403 HNRNPK Health Risk Pathogenic/Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS863223404 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS863223405 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Ichthyosis
RS863223406 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS863223408 ACVRL1 Health Risk Pathogenic/Likely pathogenic Pulmonary arterial hypertension, Epistaxis
RS863223409 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS863223410 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS863223411 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS863223412 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS863223413 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS863223414 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS863223415 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS863223416 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS863223417 ACVRL1 Health Risk Pathogenic —
RS863223418 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS863223419 BMPR2 Health Risk Pathogenic Idiopathic and/or familial pulmonary arterial hypertension, Pulmonary arterial hypertension
RS863223420 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
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