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
RS786205183 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS786205186 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS786205188 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205189 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205190 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205191 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205194 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205197 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205198 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205199 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205201 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS786205202 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205203 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205204 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS786205205 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS786205206 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS786205207 PNKP Health Risk Pathogenic/Likely pathogenic Ataxia - oculomotor apraxia type 4, Microcephaly
RS786205208 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS786205210 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS786205211 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS786205213 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS786205214 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS786205215 RNF43 Health Risk Pathogenic Colon serrated polyposis, Sessile serrated polyposis cancer syndrome
RS786205216 LRPAP1 Health Risk Pathogenic Myopia 23, autosomal recessive
RS786205217 BMP1 Health Risk Pathogenic Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS786205218 BMP1 Health Risk Pathogenic Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS786205219 BMP1 Health Risk Pathogenic Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS786205220 BMP1 Health Risk Pathogenic Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS786205221 MAF Health Risk Pathogenic/Likely pathogenic Cataract 21 multiple types, Cataract 21 multiple types
RS786205222 MAF Health Risk Likely pathogenic Cataract 21 multiple types, Cataract 21 multiple types
RS786205224 OTX2 Health Risk Likely pathogenic Syndromic microphthalmia type 5, Syndromic microphthalmia type 5
RS786205225 NDUFB11 Health Risk Pathogenic Linear skin defects with multiple congenital anomalies 3, Histiocytoid cardiomyopathy
RS786205227 PPP2R1A Health Risk Pathogenic/Likely pathogenic Houge-Janssens syndrome 2, Inborn genetic diseases
RS786205228 PPP2R1A Health Risk Pathogenic/Likely pathogenic Houge-Janssens syndrome 2, Inborn genetic diseases
RS786205229 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Spinocerebellar atrophy
RS786205230 EDNRA Health Risk Pathogenic Mandibulofacial dysostosis with alopecia, Mandibulofacial dysostosis with alopecia
RS786205231 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS786205232 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS786205233 AFF4 Health Risk Pathogenic Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
RS786205234 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS786205235 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS786205236 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS786205237 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS786205238 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS786205239 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS786205240 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS786205241 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS786205242 ANK1 Health Risk Pathogenic SPHEROCYTOSIS, TYPE 1
RS786205243 ANK1 Health Risk Pathogenic/Likely pathogenic SPHEROCYTOSIS, TYPE 1
RS786205244 ANK1 Health Risk Pathogenic SPHEROCYTOSIS, TYPE 1
RS786205245 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS786205246 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS786205247 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS786205248 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS786205249 CABP4 Health Risk Pathogenic/Likely pathogenic Cone-rod synaptic disorder, congenital nonprogressive
RS786205250 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS786205251 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS786205252 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS786205253 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS786205254 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS786205255 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS786205256 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS786205257 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS786205258 ORC6 Health Risk Pathogenic Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS786205271 SCN5A Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
RS786205309 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS786205314 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS786205315 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS786205320 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS786205344 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS786205345 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS786205349 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS786205353 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS786205356 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS786205361 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS786205367 TTN Health Risk Pathogenic Myopathy, myofibrillar
RS786205389 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS786205396 TTN Health Risk Conflicting classifications of pathogenicity —
RS786205416 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS786205431 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS786205435 MYH11 Health Risk Pathogenic/Likely pathogenic Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
RS786205436 SDHD Health Risk Likely pathogenic Fatal infantile mitochondrial cardiomyopathy, Mitochondrial complex 2 deficiency
RS786205441 EPHA2 Health Risk Likely pathogenic —
RS786205442 YARS1 Health Risk Likely pathogenic —
RS786205443 P3H1 Health Risk Likely pathogenic —
RS786205444 RPE65 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS786205445 ABCA4 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Severe early-childhood-onset retinal dystrophy
RS786205446 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS786205447 ABCA4 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS786205449 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS786205450 CRB1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Leber congenital amaurosis 8
RS786205451 LAMB3 Health Risk Likely pathogenic —
RS786205452 USH2A Health Risk Likely pathogenic —
RS786205454 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS786205455 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS786205456 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS786205457 MYPN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS786205458 ADK Health Risk Conflicting classifications of pathogenicity Adenosine kinase deficiency, Adenosine kinase deficiency
RS786205459 CDHR1 Health Risk Likely pathogenic —
RS786205460 SLC16A12 Health Risk Likely pathogenic —
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