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
RS79067453 BLTP1 Health Risk Conflicting classifications of pathogenicity Alkuraya-Kucinskas syndrome, BLTP1-related disorder
RS79068489 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS79071028 LARS1 Health Risk Likely pathogenic —
RS79074685 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS79077926 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Retinal macular dystrophy type 2
RS79079368 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS79080341 DPYS Health Risk Conflicting classifications of pathogenicity See cases, Dihydropyrimidinase deficiency
RS790889 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS79106013 SLC30A10 Health Risk Conflicting classifications of pathogenicity —
RS79106593 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS79113972 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS79122263 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Medulloblastoma WNT activated
RS79135870 SLCO1B1 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, Rotor syndrome
RS79138021 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS79146426 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS79155047 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS79157191 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, MTHFR-related disorder
RS79161241 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS79162268 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS79179577 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS79184444 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS7918487 PTF1A Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
RS79184941 FGFR2 Health Risk Conflicting classifications of pathogenicity Acrocephalosyndactyly type I, Endometrial carcinoma
RS79185455 HECW2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS79185772 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS79187669 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS79205344 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS79208797 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS79212994 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS79215220 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS79216498 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS79220301 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS79220522 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS79228041 ALB Health Risk Pathogenic ALBUMIN B, ALBUMIN B
RS79230542 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS79238222 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS79241408 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS79251326 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS79255785 DIAPH3 Health Risk Conflicting classifications of pathogenicity DIAPH3-related disorder, DIAPH3-related disorder
RS79257157 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS79261248 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS79263074 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS79267946 CA8 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS79273904 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS79275181 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 1, von Willebrand disease type 2
RS79279902 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS79280775 ARID2 Health Risk Likely pathogenic Neurodevelopmental disorder, Gastric cancer
RS79281338 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS79282181 VPS13D Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS79282516 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS79286384 MPDU1 Health Risk Conflicting classifications of pathogenicity MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS79290524 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS79292123 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS79295927 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS79299301 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS79300175 CRIPAK;LOC126806945;UVSSA Health Risk Conflicting classifications of pathogenicity —
RS79305170 CFAP418 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 16, Retinitis pigmentosa
RS79306830 CTRL Health Risk Conflicting classifications of pathogenicity —
RS79310136 SMN1 Health Risk Pathogenic —
RS79310911 RNASEH2B Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS79314063 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS79318303 TREX1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS79323615 APC Health Risk Pathogenic Familial colorectal cancer, Familial adenomatous polyposis 1
RS79324124 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS79324540 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS79338570 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS79353057 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS79363335 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS7936354 OTOG Health Risk Conflicting classifications of pathogenicity Meniere disease, Meniere disease
RS79375991 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS793888505 TMEM237 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 14, Joubert syndrome 14
RS793888506 TMEM165 Health Risk Pathogenic TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
RS793888507 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Orofacial-digital syndrome IV
RS793888508 TCTN3 Health Risk Pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS793888509 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Nonpapillary renal cell carcinoma
RS793888510 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS793888511 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS793888512 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS793888513 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS793888514 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS793888515 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS793888517 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS793888521 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS793888522 STAP1 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS793888523 ABCA4 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS793888524 ADGRG6 Health Risk Pathogenic Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9
RS793888525 ADGRG6 Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9
RS793888526 TGM6 Health Risk Pathogenic Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS793888527 PURA Health Risk Pathogenic/Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases
RS793888530 PURA Health Risk Pathogenic/Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS793888531 PURA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS793888532 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS793888533 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS793888537 PURA Health Risk Pathogenic —
RS793888538 PURA Health Risk Pathogenic —
RS793888539 PURA Health Risk Pathogenic —
RS793888540 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS793888541 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS79389353 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Inborn genetic diseases
RS79390501 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
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