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
RS201499886 FUCA1 Health Risk Pathogenic/Likely pathogenic Fucosidosis, Fucosidosis
RS201500006 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS201500134 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Wolff-Parkinson-White pattern
RS201500220 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS201500226 PXDNL Health Risk Conflicting classifications of pathogenicity —
RS201500476 TET3 Health Risk Conflicting classifications of pathogenicity —
RS201500574 CTSF Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases
RS201500782 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS201500822 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS201500946 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS201501322 PLOD2 Health Risk Likely pathogenic —
RS201501478 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS201501591 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201501951 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201502095 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS201502145 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS201502246 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS201502372 BLOC1S3 Health Risk Conflicting classifications of pathogenicity BLOC1S3-related disorder, Inborn genetic diseases
RS201502401 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Joubert syndrome
RS201503021 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS201503270 CLCC1 Health Risk Conflicting classifications of pathogenicity —
RS201503338 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS201503351 SCN9A Health Risk Conflicting classifications of pathogenicity Epilepsy, Neuropathy
RS201503405 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS201503514 CETP Health Risk Conflicting classifications of pathogenicity Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS201503558 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS201503587 NPHS1 Health Risk Conflicting classifications of pathogenicity Familial idiopathic steroid-resistant nephrotic syndrome, Congenital nephrotic syndrome
RS201503610 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS201503907 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS201504073 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Episodic ataxia type 1
RS201504436 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201504674 EYA1 Health Risk Conflicting classifications of pathogenicity Otofaciocervical syndrome 1, Branchiootic syndrome 1
RS201504946 CEP290 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Meckel syndrome
RS201505036 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS201505264 ERCC2 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum
RS201505306 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201506037 DUOXA2 Health Risk Conflicting classifications of pathogenicity Thyroglobulin synthesis defect, Congenital hypothyroidism
RS201506104 TTN Health Risk Conflicting classifications of pathogenicity —
RS201506269 NALCN Health Risk Conflicting classifications of pathogenicity —
RS201506296 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Inborn genetic diseases
RS201507040 CDK10 Health Risk Conflicting classifications of pathogenicity Al Kaissi syndrome, Cervical cancer
RS201507046 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201507518 PRKCSH Health Risk Conflicting classifications of pathogenicity —
RS201507947 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCNT-related disorder
RS201507971 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS201508804 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS201509045 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS201509063 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS201509164 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS201509408 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 1, Branchiootic syndrome 1
RS201509501 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS201509960 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS201510004 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201510495 CLCNKB Health Risk Conflicting classifications of pathogenicity —
RS201510575 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS201510617 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome
RS201510850 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS201510986 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201511311 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS201511530 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS201512527 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS201512833 FGFR2 Health Risk Conflicting classifications of pathogenicity Beare-Stevenson cutis gyrata syndrome, Isolated Coronal Synostosis
RS201512900 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS201513102 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS201513130 DNA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201513205 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS201513511 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS201513512 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS201514086 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS201514147 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS201514157 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS201514487 ARMC9 Health Risk Likely pathogenic —
RS201514622 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS201514636 ATP8B1 Health Risk Conflicting classifications of pathogenicity ATP8B1-related disorder, ATP8B1-related disorder
RS201514840 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS201514908 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS201515738 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
RS201515915 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS201516290 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS201516498 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS201517210 KLC2 Health Risk Conflicting classifications of pathogenicity —
RS201517260 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS201517516 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS201517720 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201517835 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS201517837 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS201517886 DIAPH3 Health Risk Conflicting classifications of pathogenicity DIAPH3-related disorder, DIAPH3-related disorder
RS201517907 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201517929 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS201517936 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS201517977 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS201518227 TOR1AIP1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS201518390 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy
RS201518494 ATP13A3 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS201518545 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS201518717 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS201518848 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS201518882 HKDC1 Health Risk Conflicting classifications of pathogenicity Nonsyndromic cleft lip palate, Retinitis pigmentosa 92
RS201519006 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypopigmentation-punctate palmoplantar keratoderma syndrome, Type 2 diabetes mellitus
RS201519016 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
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