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
RS201302282 DMD Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Duchenne muscular dystrophy
RS201302681 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS201303087 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS201303962 LAMA5 Health Risk Conflicting classifications of pathogenicity —
RS201304033 TLR7 Health Risk Conflicting classifications of pathogenicity TLR7-related disorder, TLR7-related disorder
RS2013040501 CDH2 Health Risk Pathogenic/Likely pathogenic Agenesis of corpus callosum, cardiac
RS201304369 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS201304511 SLC34A1 Health Risk Pathogenic Hypercalcemia, infantile
RS201304559 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS201304690 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS201304831 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS201305322 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS201305795 HTRA1 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS201306028 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS201306565 TSHR Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS201306709 MSRB3 Health Risk Likely pathogenic Rare genetic deafness, Hearing loss
RS201307156 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS201308300 LAMC2 Health Risk Pathogenic/Likely pathogenic —
RS201308431 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201308481 USH1C Health Risk Conflicting classifications of pathogenicity —
RS201308521 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS201309716 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Coffin-Siris syndrome
RS201309731 CLCNKA Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS201309785 PDE6C Health Risk Conflicting classifications of pathogenicity —
RS201310026 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS201310235 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS201310328 TBXA2R Health Risk Conflicting classifications of pathogenicity Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired thromboxane A2 agonist-induced platelet aggregation
RS201310376 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS201310509 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS201310681 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS201310807 EPB41L4B Health Risk Conflicting classifications of pathogenicity —
RS201311000 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS201311057 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS2013111940 CDH2 Health Risk Pathogenic Agenesis of corpus callosum, cardiac
RS201311640 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS201311681 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS201311843 TNC Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 56, Autosomal dominant nonsyndromic hearing loss 56
RS201311931 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Intellectual disability
RS201312041 HERC1 Health Risk Conflicting classifications of pathogenicity —
RS201312056 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS201312229 MYO18B Health Risk Conflicting classifications of pathogenicity MYO18B-related disorder, Inborn genetic diseases
RS201312287 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS201312340 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS201312636 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS201312718 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS201312753 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS2013131818 CFAP58 Health Risk Pathogenic Spermatogenic failure 49, Spermatogenic failure 49
RS201313263 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS201313774 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS201313856 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS201313861 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS201314157 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS201314211 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS201314411 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201314561 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201314683 GJB3 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 1, Inborn genetic diseases
RS201314784 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS201314877 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS201315111 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS201315315 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS201315836 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephaly
RS201317014 ABHD12 Health Risk Likely pathogenic —
RS201317128 EZR Health Risk Conflicting classifications of pathogenicity —
RS201317502 PIGT Health Risk Pathogenic PIGT-related disorder, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS201318247 TMEM138 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 16, TMEM138-related disorder
RS201318322 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism
RS201318480 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS201318927 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS201319115 HNF4A Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Maturity-onset diabetes of the young
RS201319323 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, CNGB1-related disorder
RS201319352 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS201319759 GFM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201319864 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
RS201320006 WDR19 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5
RS201320326 LRP5 Health Risk Pathogenic —
RS201320564 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS201320592 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS201320721 MECOM Health Risk Conflicting classifications of pathogenicity —
RS201320940 FOXP2 Health Risk Conflicting classifications of pathogenicity Childhood apraxia of speech, Inborn genetic diseases
RS201321024 GLI3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Greig cephalopolysyndactyly syndrome
RS2013212122 NFIX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Malan overgrowth syndrome
RS2013218777 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Marshall-Smith syndrome
RS2013220573 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS2013220977 NFIX Health Risk Pathogenic —
RS201322234 GFPT1 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome
RS2013223468 NFIX Health Risk Pathogenic/Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS201322581 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS2013234045 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Marshall-Smith syndrome
RS2013235786 NFIX Health Risk Pathogenic/Likely pathogenic Malan overgrowth syndrome, Marshall-Smith syndrome
RS201323781 COG4 Health Risk Conflicting classifications of pathogenicity COG4-congenital disorder of glycosylation, COG4-related disorder
RS201323940 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS201324316 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS201324424 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, SH3PXD2B-related disorder
RS2013246660 NFIX Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS201324954 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS201325274 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Gastric cancer
RS201325716 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, Cataract 6 multiple types
RS201325845 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS201325904 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201326023 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
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