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
RS142126065 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142126068 HAMP Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 2B
RS142126223 ANO5 Health Risk Conflicting classifications of pathogenicity ANO5-Related Muscle Diseases, ANO5-Related Muscle Diseases
RS142126511 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS142126808 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypotonia
RS142127319 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS142127656 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS142128375 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS142128738 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS142128956 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS142129159 CRB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Hereditary macular dystrophy
RS142129359 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1421294063 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS142129409 PADI3 Health Risk Pathogenic/Likely pathogenic Uncombable hair syndrome 1, PADI3-related disorder
RS1421295482 SPTA1 Health Risk Likely pathogenic —
RS142129767 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS142129866 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS142129985 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS1421302939 RTN2 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS142131750 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS142132127 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1421324764 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS1421325265 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS142132973 TTN Health Risk Conflicting classifications of pathogenicity —
RS142133195 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS142133229 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Centronuclear myopathy
RS142133690 POGZ Health Risk Pathogenic Intellectual disability, Intellectual disability
RS142134135 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
RS142134146 PGK1 Health Risk Conflicting classifications of pathogenicity —
RS1421354085 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS142135772 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Paragangliomas with sensorineural hearing loss
RS142136672 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, ALOXE3-related disorder
RS142137599 CHRNA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
RS142138590 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1421392730 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1421405659 MYBPC1 Health Risk Pathogenic/Likely pathogenic MYBPC1-related disorder, Myopathy
RS1421407425 COL13A1 Health Risk Pathogenic —
RS142141660 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142142194 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS142142718 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS1421431727 TULP1 Health Risk Pathogenic —
RS142143178 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS142143310 PDLIM3 Health Risk Conflicting classifications of pathogenicity Familial cardiomyopathy, Primary dilated cardiomyopathy
RS1421433644 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1421435359 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS142143566 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS142143752 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS142143966 LEPR Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Inborn genetic diseases
RS142144208 CAST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1421444086 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1421446047 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1421448666 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS142145295 TCF3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142145391 AGPAT2 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Congenital generalized lipodystrophy type 1
RS1421472804 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS1421473851 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS142148533 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, TPO-related disorder
RS142149129 C1QBP Health Risk Likely pathogenic —
RS142149555 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS142149828 TANGO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142150565 HACE1 Health Risk Conflicting classifications of pathogenicity HACE1-related disorder, HACE1-related disorder
RS142150953 MOCOS Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS142151316 WASF1 Health Risk Conflicting classifications of pathogenicity WASF1-related disorder, Neurodevelopmental disorder with absent language and variable seizures
RS142151614 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS142151703 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1421531475 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1421531868 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142153571 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease
RS142154661 WDR72 Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS1421547378 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS142155101 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS142155860 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1
RS142155986 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1421561848 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS142156224 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS142156843 CYP26B1 Health Risk Conflicting classifications of pathogenicity CYP26B1-related disorder, Inborn genetic diseases
RS1421573171 RAX Health Risk Likely pathogenic —
RS142157418 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS142157473 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1421575182 PCDH15 Health Risk Pathogenic —
RS1421576880 GFAP Health Risk Likely pathogenic GFAP-related disorder, GFAP-related disorder
RS1421591155 TRNT1 Health Risk Likely pathogenic TRNT1-related disorder, TRNT1-related disorder
RS1421591415 CAPN1 Health Risk Pathogenic —
RS1421592107 LRRC56 Health Risk Pathogenic/Likely pathogenic Kartagener syndrome, Kartagener syndrome
RS1421598686 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS142161673 RDX Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS142161945 SLC4A1 Health Risk Conflicting classifications of pathogenicity —
RS142161948 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, COL2A1-related disorder
RS142162198 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS142162593 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS142162854 RFX6 Health Risk Conflicting classifications of pathogenicity RFX6-related disorder, RFX6-related disorder
RS1421628949 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS142163063 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS142163070 CYP11B1 Health Risk Conflicting classifications of pathogenicity —
RS1421636172 WDR19 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Cranioectodermal dysplasia 4
RS142164108 HABP2 Health Risk Conflicting classifications of pathogenicity Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia
RS1421641874 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS142164373 PIGO Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS142164435 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS142164767 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
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