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
RS1232715199 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1232739970 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Thymoma
RS1232782030 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1232818145 USH2A Health Risk Pathogenic —
RS1232880706 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1232891794 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1232893657 IVD Health Risk Likely pathogenic —
RS1232899835 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1232900431 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1232901259 NTRK1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS1232923788 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1232964733 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS1232967796 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1232968072 RAB28 Health Risk Pathogenic —
RS1232994809 ARMC9 Health Risk Likely pathogenic —
RS1233005055 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS1233016139 ASCC1 Health Risk Pathogenic —
RS1233016217 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1233025207 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, COL7A1-related disorder
RS1233027765 ABCA3 Health Risk Pathogenic ABCA3-related disorder, ABCA3-related disorder
RS1233033042 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Diffuse midline glioma
RS1233050377 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1233062866 RERE Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS1233077552 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS1233081327 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1233085260 CLCN7 Health Risk Pathogenic/Likely pathogenic Autosomal dominant osteopetrosis 2, Autosomal dominant osteopetrosis 2
RS1233117382 SPART Health Risk Pathogenic —
RS1233124208 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1233130743 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency 3
RS1233135084 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1233140401 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS1233145763 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1233151424 FAM149B1 Health Risk Pathogenic Joubert syndrome 36, Joubert syndrome 36
RS1233197046 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1233207932 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS1233220987 TWIST1 Health Risk Pathogenic/Likely pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1233243754 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1233249991 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1233252115 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Inborn genetic diseases
RS1233259784 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1233266154 ERCC8 Health Risk Pathogenic —
RS1233316727 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1233324021 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS1233330150 F10 Health Risk Conflicting classifications of pathogenicity Abnormal bleeding, Thrombocytopenia
RS1233331806 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1233334494 ADGRV1 Health Risk Pathogenic Febrile seizures, familial
RS1233341881 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1233347902 CANT1 Health Risk Likely pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS1233360706 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1233365626 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS1233367010 FBXO11 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1233371859 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS1233376985 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1233380601 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Malignant tumor of urinary bladder
RS1233392878 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1233412023 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1233430749 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1233444890 SLC6A8 Health Risk Conflicting classifications of pathogenicity Creatine transporter deficiency, Creatine transporter deficiency
RS1233448699 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1233449433 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1D
RS1233466909 CNGB3 Health Risk Likely pathogenic Achromatopsia, Achromatopsia
RS1233469782 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1233470165 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1233478832 NPHP1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 1, Nephronophthisis
RS1233480483 SAG Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1233482159 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS1233484707 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1233501553 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1233541390 FOXG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FOXG1 disorder
RS1233553130 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1233562246 OTOGL Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS1233577562 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1233584524 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1233593843 XRCC4 Health Risk Pathogenic —
RS1233598157 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1233603821 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1233603872 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1233611505 CACNA1A Health Risk Likely pathogenic Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS1233624462 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1233639372 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1233661099 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1233675347 CHST6 Health Risk Likely pathogenic See cases, See cases
RS1233699096 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1233701691 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1233702775 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS1233706534 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1233725939 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1233751084 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1233772105 SLC4A11 Health Risk Likely pathogenic —
RS1233777224 TRIOBP Health Risk Likely pathogenic —
RS1233778317 EHMT1 Health Risk Likely pathogenic EHMT1-related disorder, EHMT1-related disorder
RS1233790837 AMER1 Health Risk Conflicting classifications of pathogenicity AMER1-related disorder, Inborn genetic diseases
RS1233791234 ERCC2 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum
RS1233792020 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1233795152 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS1233809089 NUP93 Health Risk Likely pathogenic —
RS1233811324 RSPH9 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1233836740 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1233848330 IMPG1 Health Risk Pathogenic —
RS1233849070 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
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