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
RS746563151 AGBL5 Health Risk Likely pathogenic —
RS746563654 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS746563980 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Inborn genetic diseases
RS746566593 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS746566745 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS746566873 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS746567958 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS746569192 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746570875 IGF1R Health Risk Pathogenic —
RS746570981 FBN2 Health Risk Conflicting classifications of pathogenicity Macular degeneration, early-onset
RS746571094 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Inborn genetic diseases
RS746571208 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS746571244 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS746572271 KIF26A Health Risk Pathogenic Cortical dysplasia, complex
RS746572452 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS746572548 TRMT1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 68
RS746574289 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS746574955 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS746574978 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS746575171 PNPLA1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS746575438 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS746575551 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS746576915 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS746578841 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS746578868 GRIN2D Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 46
RS746579020 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS746579337 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS746579947 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746581330 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS746581409 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS746581714 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS746582303 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS746582620 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS746583007 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS746584417 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS746585235 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Inborn genetic diseases
RS746585658 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS746586029 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS746587907 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS746588726 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS746588865 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS746590157 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS746591648 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS746591926 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS746592911 APC Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS746593718 TBCE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive Kenny-Caffey syndrome
RS746594822 NKX2-5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial septal defect 7
RS746594889 MAK Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 62
RS746594902 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS746595127 CERKL Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS746595362 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS746597173 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS746597270 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS746597831 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS746598421 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS746598992 ATM Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS746599076 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS746599803 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS746601093 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS746602135 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS746602151 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS746602244 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS746602775 ATP13A3 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary hypertension
RS746603120 REL Health Risk Pathogenic —
RS746604591 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, STXBP2-related disorder
RS746604683 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS746604945 CFAP300 Health Risk Likely pathogenic —
RS746606852 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS746607414 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS746607455 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS746607723 NEU1 Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Sialidosis type 2
RS746607851 MRPL39 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Combined oxidative phosphorylation deficiency 59
RS746608405 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS746608568 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS746609914 FOXRED1 Health Risk Conflicting classifications of pathogenicity —
RS746609932 GDAP1 Health Risk Likely pathogenic Peripheral neuropathy, Peripheral neuropathy
RS746609972 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS746610168 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS746610206 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746610406 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1D
RS746610724 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS746611627 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS746612410 KLHL7 Health Risk Pathogenic PERCHING syndrome, Neurodevelopmental delay
RS746612786 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS746612831 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS746612913 POP1 Health Risk Pathogenic —
RS746613509 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS746613525 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS746614172 NUS1 Health Risk Likely pathogenic NUS1-related disorder, NUS1-related disorder
RS746614226 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
RS746615217 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS746616255 ERCC6 Health Risk Pathogenic —
RS746617574 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS746618021 ADGRV1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS746621216 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS746621296 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746621306 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS746623019 C5 Health Risk Likely pathogenic —
RS746623393 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS746623465 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
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