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
RS74091614 SCN8A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Acute myeloid leukemia
RS74103423 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS74114618 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 2
RS74116308 CELSR2 Health Risk Conflicting classifications of pathogenicity —
RS74124661 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS74128547 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS74136386 PKP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS74141466 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS74142901 DNAJC12 Health Risk Conflicting classifications of pathogenicity Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS74157365 STN1 Health Risk Conflicting classifications of pathogenicity Cerebroretinal microangiopathy with calcifications and cysts 2, STN1-related disorder
RS74160617 FGFR2 Health Risk Conflicting classifications of pathogenicity Isolated Coronal Synostosis, Craniosynostosis syndrome
RS74162061 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS74162067 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Inborn genetic diseases
RS74162074 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS74162075 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS74162084 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS74162087 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS74162090 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS74162093 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS74162097 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Malignant tumor of esophagus
RS74162102 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Inborn genetic diseases
RS74173201 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS7418956 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS74253369 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS74282951 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS74315103 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS74315109 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS74315110 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS74315111 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS74315130 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS74315144 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS74315146 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, mild
RS74315152 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS74315154 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS74315205 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6
RS74315270 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS74315271 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS74315277 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS74315280 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS74315283 AGT Health Risk Pathogenic/Likely pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS74315284 BSND Health Risk Pathogenic Bartter disease type 4A, Bartter disease type 4A
RS74315285 BSND Health Risk Pathogenic Bartter disease type 4A, Bartter syndrome
RS74315286 BSND Health Risk Pathogenic/Likely pathogenic Bartter disease type 4A, Bartter syndrome
RS74315287 BSND Health Risk Pathogenic/Likely pathogenic Bartter disease type 4A, Bartter syndrome
RS74315288 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Bartter syndrome type 4
RS74315289 BSND Health Risk Pathogenic/Likely pathogenic Bartter disease type 4A, Bartter syndrome
RS74315290 CD247 Health Risk Pathogenic Immunodeficiency 25, Immunodeficiency 25
RS74315291 CHRNB2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy 3
RS74315293 CPT2 Health Risk Pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS74315294 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form
RS74315295 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form
RS74315296 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form
RS74315297 CPT2 Health Risk Conflicting classifications of pathogenicity; other Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS74315298 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form
RS74315299 CPT2 Health Risk Pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form
RS74315300 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form
RS74315301 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS74315302 CTSK Health Risk Pathogenic Pyknodysostosis, Inborn genetic diseases
RS74315303 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS74315304 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS74315305 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS74315306 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS74315309 EDARADD Health Risk Likely pathogenic Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type
RS74315311 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, See cases
RS74315312 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS74315313 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS74315314 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS74315315 GJB3 Health Risk Likely pathogenic Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
RS74315316 GJB3 Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
RS74315317 GJB3 Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
RS74315318 GJB3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 2B, Erythrokeratodermia variabilis et progressiva 1
RS74315321 GJB3 Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
RS74315322 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS74315323 HJV Health Risk Pathogenic Hemochromatosis type 1, Hemochromatosis type 2A
RS74315324 HJV Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS74315325 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS74315326 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS74315327 HJV Health Risk Pathogenic Hemochromatosis type 2A, HJV-related disorder
RS74315328 MYOC Health Risk Pathogenic Glaucoma 1, open angle
RS74315329 MYOC Health Risk Pathogenic Glaucoma 1, open angle
RS74315330 MYOC Health Risk Pathogenic Glaucoma 1, open angle
RS74315331 MYOC Health Risk Likely pathogenic Glaucoma 1, open angle
RS74315332 MYOC Health Risk Pathogenic Glaucoma 1, open angle
RS74315334 MYOC Health Risk Pathogenic Glaucoma 1, open angle
RS74315336 MYOC Health Risk Pathogenic Glaucoma 1, open angle
RS74315338 MYOC Health Risk Pathogenic Glaucoma 1, open angle
RS74315341 MYOC Health Risk Pathogenic Glaucoma 1, open angle
RS74315342 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS74315343 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS74315344 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS74315345 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS74315346 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS74315347 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS74315348 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS74315349 NR0B2 Health Risk Pathogenic Obesity, mild
RS74315351 PARK7 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS74315353 PARK7 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS74315355 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS74315356 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS74315357 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
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