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
RS773611107 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS773611280 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS773611613 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS773611782 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Juvenile myelomonocytic leukemia
RS773612935 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS773614835 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS773614956 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Acromicric dysplasia
RS773614995 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS773615177 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS773615398 MYH3 Health Risk Likely pathogenic —
RS773615399 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS773615487 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS773616244 EXOSC8 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia, type 1C
RS773617808 RPS7 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 8, Diamond-Blackfan anemia
RS773618064 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS773618223 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS773618224 PRUNE1 Health Risk Pathogenic/Likely pathogenic Abnormal brain morphology, Neurodevelopmental disorder with microcephaly
RS773618613 CD46 Health Risk Likely pathogenic CD46-related disorder, CD46-related disorder
RS773619297 FGA Health Risk Pathogenic/Likely pathogenic Familial dysfibrinogenemia, Congenital factor V deficiency
RS773619645 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS773619924 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS773620699 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773621375 PRG4 Health Risk Pathogenic/Likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS773621687 KCNT1 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS773622064 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS773624220 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS773624358 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS773624614 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Paroxysmal nocturnal hemoglobinuria 2
RS773626254 PKLR Health Risk Pathogenic Congenital anemia, Congenital anemia
RS773626580 GATA4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Atrioventricular septal defect 4
RS773627551 F7 Health Risk Conflicting classifications of pathogenicity Factor VII deficiency, Congenital factor VII deficiency
RS773627772 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS773628251 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder
RS773629275 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773629445 CLCNKB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bartter disease type 3
RS773629540 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS773630367 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS773630385 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Intellectual disability
RS773630541 WNT1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS773630976 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773631149 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS773631759 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS773632027 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773632109 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS773633834 RDH5 Health Risk Pathogenic —
RS773634689 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS773635687 RRM2B Health Risk Conflicting classifications of pathogenicity —
RS773636602 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS773637285 CEP250 Health Risk Pathogenic —
RS773637957 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS773638417 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS773638667 NFIX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Marshall-Smith syndrome
RS773639563 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS773640417 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Amyotrophic lateral sclerosis 27
RS773640553 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS773642187 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS773642409 SLX4 Health Risk Pathogenic Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS773643220 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS773643250 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS773643407 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS773644242 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS773645030 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS773645222 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS773645934 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1
RS773646282 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS773647920 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS773648511 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS773649192 LMAN2L Health Risk Likely pathogenic Intellectual disability, autosomal recessive 52
RS773649403 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS773649547 ITGA2B Health Risk Conflicting classifications of pathogenicity Glanzmann thrombasthenia 1, Inborn genetic diseases
RS773650139 NDUFAF6 Health Risk Pathogenic —
RS773650701 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS773652573 GPAT2 Health Risk Likely pathogenic Male infertility, Male infertility
RS773652620 AUH Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS773654115 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773654552 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773655049 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Inborn genetic diseases
RS773655286 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS773655381 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS773655534 ZBTB7A Health Risk Pathogenic Macrocephaly, neurodevelopmental delay
RS773656507 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS773656789 NOTCH3 Health Risk Likely pathogenic Lateral meningocele syndrome, Lateral meningocele syndrome
RS773657171 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS773658037 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS773658276 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Hypertrophic cardiomyopathy
RS773659883 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS773661118 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773662047 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS773662834 CPLANE1 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome and related disorders
RS773662857 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS773663147 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS773663190 GP1BA Health Risk Pathogenic Thrombocytopenia, Abnormal bleeding
RS773663318 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS773663593 UBE3B Health Risk Conflicting classifications of pathogenicity —
RS773664315 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS773665854 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS773666300 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS773666398 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS773666793 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS773666802 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder
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