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
RS145220151 CCDC22 Health Risk Conflicting classifications of pathogenicity Gastric cancer, Gastric cancer
RS1452202532 PRKCSH Health Risk Pathogenic —
RS1452206168 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1452206214 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1452208078 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS145221454 IL17RD Health Risk Pathogenic Hypogonadotropic hypogonadism 18 with anosmia, Hypogonadotropic hypogonadism 18 with anosmia
RS145222195 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS145222232 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1452228678 ABCA12 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B
RS145225497 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS1452259575 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS145226312 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS145226687 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS145226802 LRP5 Health Risk Conflicting classifications of pathogenicity LRP5-related disorder, LRP5-related disorder
RS145226920 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS145227129 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS145227848 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1452290404 HDAC8 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 5, Inborn genetic diseases
RS145229115 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS145229472 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Sarcoma
RS1452295073 FOXG1 Health Risk Pathogenic FOXG1 disorder, Inborn genetic diseases
RS145229963 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1452300736 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1452314438 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS145231502 EXPH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, EXPH5-related disorder
RS145231743 BCAT2 Health Risk Conflicting classifications of pathogenicity —
RS1452318343 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS1452322332 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1452325373 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1452327155 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1452328130 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1452329078 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145233420 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases
RS1452339268 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1452342471 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS145234666 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS145235506 PLS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145235970 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS145236115 NPC1 Health Risk Conflicting classifications of pathogenicity —
RS145236294 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS145236739 MYH3 Health Risk Likely pathogenic —
RS145236923 GALNT12 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Adenomatous polyposis coli
RS145237146 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS145237292 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1452382399 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS145238250 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Inborn genetic diseases
RS145238683 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS145238835 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, SLC5A5-related disorder
RS145239391 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases
RS145240086 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS1452402269 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS145241551 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS145241852 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS145242123 DNAJC13 Health Risk Conflicting classifications of pathogenicity —
RS145242127 PAPSS2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS145242277 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 7, Paget disease of bone 2
RS145242546 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS145242923 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS145243129 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS145243180 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS145243219 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease
RS145243292 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS145243354 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, ALDH4A1-related disorder
RS145243532 MMP13 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia
RS1452438437 GRIP1 Health Risk Pathogenic —
RS145244231 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS1452451283 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS145245478 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease
RS1452455390 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS1452462211 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1452465499 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS145247580 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, Anemia
RS145247651 KATNIP Health Risk Likely pathogenic Joubert syndrome 26, Joubert syndrome 26
RS145247723 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, CNGB3-related disorder
RS1452477558 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS145247814 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS145247848 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS1452482256 DLL3 Health Risk Pathogenic/Likely pathogenic DLL3-related disorder, DLL3-related disorder
RS1452483770 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS145248590 KIF1B Health Risk Conflicting classifications of pathogenicity KIF1B-related disorder, KIF1B-related disorder
RS1452490578 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1452496837 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS145250153 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS1452512048 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 1, Familial isolated arrhythmogenic right ventricular dysplasia
RS145251229 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1452515828 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS145251615 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, 8 conditions
RS145252402 MYH11;NDE1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1452525918 POC1B Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS145254330 SLC26A4 Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4
RS1452543778 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1452558347 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1452559752 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1452571273 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1452575772 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS1452578209 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS145258166 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS145258293 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS145258312 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145258407 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
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