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
RS2552273400 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552273407 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552273413 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552273429 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552274579 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552274637 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552274638 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552274641 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552275065 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552275067 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552275070 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552278463 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2552278470 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552278486 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552278851 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2552278873 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552278937 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552278972 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552278982 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552278993 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552278999 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552279142 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552279147 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552279432 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552279443 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552279728 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552279741 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552279782 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552279788 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552279789 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2552279972 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2552279991 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552280001 NEB Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2552280290 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552280298 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552280353 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2552280385 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552280861 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552280866 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552280868 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552281533 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS2555817 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2555818 TTN Health Risk Likely pathogenic —
RS25640 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2569548 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS2575316 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2583 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS2586486 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2600447 RFC1 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
RS2609255 FAM13A Health Risk Uncertain significance; association Interstitial lung disease 2, Chronic obstructive pulmonary disease
RS2614833 STRC Health Risk Conflicting classifications of pathogenicity STRC-related disorder, Rare genetic deafness
RS2627765 PNPT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2639142 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS266257354 EPB42 Health Risk Pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS266257355 EPB42 Health Risk Pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS2673793 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS267598175 DARS2 Health Risk Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS267598208 NPHS2 Health Risk Likely pathogenic NPHS2-related disorder, Ovarian serous cystadenocarcinoma
RS267598278 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 8
RS267598622 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS267598623 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS267598773 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS267598976 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS267599026 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS267599036 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS267599044 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS267599059 TTN Health Risk Conflicting classifications of pathogenicity —
RS267599060 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS267599063 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS267599069 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS267599093 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS267599120 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS267599125 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS267599127 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS267599180 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS267599184 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS267599185 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS267599201 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS267599211 CNOT9 Health Risk Likely pathogenic CNOT9-associated neurodevelopmental disorder, CNOT9-associated neurodevelopmental disorder
RS267599231 COL4A4 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS267599232 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS267599303 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency 1
RS267599353 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS267599401 LHCGR Health Risk Conflicting classifications of pathogenicity Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
RS267599442 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS267599505 INPP4A Health Risk Pathogenic NEURODEVELOPMENTAL DISORDER WITH GROWTH IMPAIRMENT, QUADRIPARESIS
RS267599520 ATP2B2 Health Risk Pathogenic Hearing loss, autosomal dominant 82
RS267599669 SI Health Risk Pathogenic —
RS267599794 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS267599808 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS267599946 PROS1 Health Risk Likely pathogenic Protein S deficiency disease, Protein S deficiency disease
RS267600009 AFG2A Health Risk Pathogenic/Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS267600185 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS267600319 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS267600357 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS267600727 ADGRV1 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2C
RS267600817 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS267600861 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS267600862 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS267601070 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
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