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
RS779530889 METAP1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS779530981 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS779534698 TGFB1 Health Risk Conflicting classifications of pathogenicity —
RS779534868 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779535145 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779535244 COL6A3 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Dystonia 27
RS779536510 ALDH4A1 Health Risk Pathogenic/Likely pathogenic Hyperprolinemia type 2, Hyperprolinemia type 2
RS779536952 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS779537030 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779537034 SPTA1 Health Risk Pathogenic Hereditary spherocytosis, Hereditary spherocytosis type 3
RS779537709 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS779538333 DNAAF4 Health Risk Pathogenic DNAAF4-related disorder, DNAAF4-related disorder
RS779540528 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS779541256 ACY1 Health Risk Pathogenic —
RS779541890 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS779542354 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS779543207 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS779543740 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS779543847 TBX22 Health Risk Conflicting classifications of pathogenicity Cleft palate with or without ankyloglossia, X-linked
RS779544327 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS779544809 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS779545243 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779545419 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS779545665 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS779545826 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS779546178 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS779546941 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS779547523 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS779548058 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS779548342 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS779548541 MYO15A Health Risk Pathogenic —
RS779549076 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS779549091 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779549361 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS779549457 TTC7A Health Risk Pathogenic/Likely pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS779549899 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779550102 ACTL6B Health Risk Likely pathogenic ACTL6B-related recessive epilepsy, ACTL6B-related BAFopathy
RS779550219 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS779551518 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS779551787 SDK1 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS77955179 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS779552164 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS779553333 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS779553362 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS779553489 PRF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS779553529 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS779553737 LPIN2 Health Risk Pathogenic/Likely pathogenic Autoinflammatory syndrome, Majeed syndrome
RS779555194 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS779555589 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS779556619 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS779557153 MYL3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS779557320 PHOX2B Health Risk Pathogenic Congenital central hypoventilation, Hereditary cancer-predisposing syndrome
RS779557503 DPYD Health Risk Likely pathogenic —
RS779558159 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder
RS779558314 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS779558690 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS779559482 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS779559545 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779559577 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS779560450 RASGRP1 Health Risk Pathogenic Immunodeficiency 64, Immunodeficiency 64
RS779561135 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS779562449 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS779562531 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS779565135 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS779565865 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS779566198 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS779566253 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS779567692 IREB2 Health Risk Likely pathogenic NEURODEGENERATION, EARLY-ONSET
RS779568205 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Heart failure
RS779568504 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779568827 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases
RS779568890 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia
RS779569608 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779572391 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS779572631 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS779573838 EP300 Health Risk Conflicting classifications of pathogenicity Menke-Hennekam syndrome 2, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS779573927 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS779574344 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS779574582 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS779575307 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS77957535 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS779575357 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS779575469 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS779576115 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS779576853 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS779577884 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS779578073 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS779578515 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 30
RS779579351 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS779579881 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS779581111 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS779581886 TTN Health Risk Conflicting classifications of pathogenicity —
RS77958223 PAH Health Risk Likely pathogenic Phenylketonuria, Inborn genetic diseases
RS779582317 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS77958248 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS77958296 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS779583004 TTN Health Risk Conflicting classifications of pathogenicity —
RS779584016 POLR2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS779584313 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic neuralgia
RS779584449 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
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