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
RS769475535 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769476648 NECTIN1 Health Risk Pathogenic Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS769477007 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS769477807 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS769478020 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS769479800 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS769480000 ARSG Health Risk Pathogenic —
RS769480362 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS769481947 CTU2 Health Risk Pathogenic Microcephaly, facial dysmorphism
RS769482036 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS769482880 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS769483933 KMT2D Health Risk Likely pathogenic —
RS769484001 MYH7 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS769484204 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS769484595 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS769484789 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS769485083 LCAT Health Risk Pathogenic/Likely pathogenic —
RS769486081 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS769487353 KCNQ3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Benign neonatal seizures
RS769488730 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS769489773 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS769491427 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS769491475 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS769491829 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS769492158 HHAT Health Risk Pathogenic —
RS769492279 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS769493139 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS769493931 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS769493959 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 4B, autosomal recessive
RS769494139 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, AGRN-related disorder
RS769494344 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Inborn genetic diseases
RS769495712 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 17
RS769496430 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS769497214 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS769497707 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769498398 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS769498821 RARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769499134 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS769499327 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS769500215 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS769500366 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS769501237 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS769501453 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS769501717 KCNJ13 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS769501754 GYG2 Health Risk Conflicting classifications of pathogenicity —
RS769501930 ASCC1 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
RS769503425 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS769503871 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS769505280 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS769505705 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769506294 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS769506319 PDE6C Health Risk Pathogenic —
RS769506328 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, MYOT-related disorder
RS769506424 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS769506610 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS769506718 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS769508388 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS769508694 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS769509601 ZP1 Health Risk Pathogenic Oocyte maturation defect 3, Oocyte maturation defect 3
RS769512832 HOXA1 Health Risk Likely pathogenic Human HOXA1 syndromes, Human HOXA1 syndromes
RS769512989 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS769513501 CSF2RB Health Risk Conflicting classifications of pathogenicity CSF2RB-related disorder, CSF2RB-related disorder
RS769516996 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS769518034 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS769518471 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS769518997 TRIM8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769519069 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, PRRT2-related disorder
RS769519367 SPINK5 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Netherton syndrome
RS769520928 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS769521436 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS769522583 NFIA Health Risk Pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS769523686 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS769524849 CDH23 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS769524894 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS769525399 TPK1 Health Risk Pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS769527912 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS769528257 SATB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome
RS769529344 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769530569 KIZ Health Risk Pathogenic —
RS769530594 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769531546 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS769531968 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS769532203 MTO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, MTO1-related disorder
RS769533145 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS769533549 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS769534248 FRAS1 Health Risk Pathogenic —
RS769535925 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS769536562 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS769537072 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS769538499 RTTN Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS769538757 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769540160 MYO3A Health Risk Pathogenic/Likely pathogenic MYO3A-related disorder, Hearing loss
RS769540174 CHST3 Health Risk Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS769540249 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS769542442 ADSS1 Health Risk Pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS769544175 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769544370 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS769545692 TRIP4 Health Risk Pathogenic —
RS769546135 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS769546741 DDX3X Health Risk Pathogenic —
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