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
RS767634570 COQ8A Health Risk Likely pathogenic —
RS767634921 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Inborn genetic diseases
RS767635052 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS76763715 GBA1 Health Risk Pathogenic/Likely pathogenic; risk factor Gaucher disease type I, Parkinson disease
RS767638289 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS767638396 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS767638989 SCNN1A Health Risk Pathogenic Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chloride 2
RS767639108 POLR1C Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS767641820 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS767642609 TMC1 Health Risk Likely pathogenic —
RS767642869 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS767643312 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767643821 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS767644891 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS767645983 PNKP Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS767646489 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS76764689 RET Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS767647070 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS767647768 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS767647793 LAMA1 Health Risk Pathogenic —
RS767648070 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS767648160 TTN Health Risk Likely pathogenic —
RS767648174 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS767648866 ABHD5 Health Risk Likely pathogenic —
RS767649048 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS767649515 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS767649680 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS767649909 SON Health Risk Conflicting classifications of pathogenicity —
RS767651648 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS767651793 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS767652057 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS767652664 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS767653663 BCAT2 Health Risk Pathogenic Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia
RS767654047 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS767655384 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS767655504 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS767656648 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS767658044 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS767658173 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS767658389 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS767659184 CHMP1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767660102 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767660162 TBXAS1 Health Risk Pathogenic —
RS767660495 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Vitreoretinopathy
RS767661570 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS767663775 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS767664526 TRAIP Health Risk Pathogenic Seckel syndrome 9, Seckel syndrome 9
RS767664883 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS767665662 AMH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767666190 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS767666219 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS767666474 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS767666616 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS767667188 GRIK2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 6
RS767667312 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS767667321 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS767667443 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS767667578 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS767667871 GPC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
RS767669471 MPDZ Health Risk Likely pathogenic —
RS767670018 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS767670019 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS767670522 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases
RS767670580 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS767670928 GRM6 Health Risk Pathogenic —
RS767671011 MAFB Health Risk Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy, Inborn genetic diseases
RS767671406 FLCN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS767671734 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767672172 ERCC2 Health Risk Pathogenic/Likely pathogenic —
RS767673156 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS767673427 SVIL Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS767673456 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS767675377 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS767676342 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS76767665 KRT3 Health Risk Conflicting classifications of pathogenicity —
RS767677287 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS767677564 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 2
RS767679135 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS767681834 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Becker muscular dystrophy
RS767682048 FASTKD2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44
RS767682136 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS767682431 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS767683935 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS767683969 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS767684060 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
RS767686118 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS767686668 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS767686686 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS767686838 GORAB Health Risk Conflicting classifications of pathogenicity Geroderma osteodysplastica, Geroderma osteodysplastica
RS767687843 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS767688038 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS767688088 SMO Health Risk Pathogenic Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
RS767688436 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS767689418 ARHGEF18 Health Risk Pathogenic Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS767689496 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS767690421 RCBTB1 Health Risk Pathogenic/Likely pathogenic RCBTB1-related retinopathy, RCBTB1-related retinopathy
RS767692014 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS767692203 DNMT3A Health Risk Pathogenic DNMT3A-related disorder, Tatton-Brown-Rahman overgrowth syndrome
RS767693150 ABCA4 Health Risk Likely pathogenic —
RS767693184 CIT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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