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
RS28928909 MYF6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, MYF6-related disorder
RS28928910 NEFL Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1C
RS28929469 SERPINC1 Health Risk Pathogenic/Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS28929470 SERPINA1 Health Risk Conflicting classifications of pathogenicity PI F, Alpha-1-antitrypsin deficiency
RS28929474 SERPINA1 Health Risk Likely pathogenic PI Z, PI Z(AUGSBURG)
RS28929478 ATP2A2 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS28929479 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS28929480 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Cryohydrocytosis
RS28929483 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome
RS28929484 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome
RS28929485 GJB2 Health Risk Pathogenic Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
RS28929488 SERPINA6 Health Risk Conflicting classifications of pathogenicity Corticosteroid-binding globulin deficiency, SERPINA6-related disorder
RS28929498 FAS Health Risk Pathogenic AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
RS28929768 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS28930068 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS28930069 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS28931568 SERPINA1 Health Risk Pathogenic; other PI M(MINERAL SPRINGS), Alpha-1-antitrypsin deficiency
RS28931569 SERPINA1 Health Risk Pathogenic/Likely pathogenic PI M(PROCIDA), Alpha-1-antitrypsin deficiency
RS28931570 SERPINA1 Health Risk Pathogenic/Likely pathogenic PI I, Alpha-1-antitrypsin deficiency
RS28931572 SERPINA1 Health Risk Pathogenic; other PI Q0(LUDWIGSHAFEN), PI NULL(LUDWIGSHAFEN)
RS28931573 APOA1 Health Risk Pathogenic APOLIPOPROTEIN A-I (MILANO), APOLIPOPROTEIN A-I (MILANO)
RS28931574 APOA1 Health Risk Pathogenic Familial amyloid polyneuropathy, Iowa type
RS28931578 APOE Health Risk Pathogenic APOE2 VARIANT, APOE2 VARIANT
RS28931580 AQP2 Health Risk Pathogenic/Likely pathogenic Diabetes insipidus, nephrogenic
RS28931581 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS28931582 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS28931583 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS28931584 SLC4A1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 4, Renal tubular acidosis
RS28931585 SLC4A1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS28931586 CD40 Health Risk Pathogenic Hyper-IgM syndrome type 3, Hyper-IgM syndrome type 3
RS28931588 CTNNB1 Health Risk Pathogenic Hepatoblastoma, Pilomatrixoma
RS28931589 CTNNB1 Health Risk Pathogenic; other Hepatoblastoma, Prostate cancer
RS28931591 CHRNA4 Health Risk Pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy
RS28931593 GJB2 Health Risk Pathogenic Palmoplantar keratoderma-deafness syndrome, Autosomal dominant nonsyndromic hearing loss 3A
RS28931594 GJB2 Health Risk Pathogenic Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Ichthyosis
RS28931595 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A
RS28931600 GJA1 Health Risk Pathogenic Syndactyly type 3, Syndactyly type 3
RS28931601 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, autosomal recessive
RS28931602 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS28931603 CPOX Health Risk Conflicting classifications of pathogenicity Coproporphyria, Hereditary coproporphyria
RS28931604 CRYGC Health Risk Conflicting classifications of pathogenicity Cataract 2, multiple types
RS28931605 CRYGD Health Risk Pathogenic Cataract 4 multiple types, Developmental cataract
RS28931606 POR Health Risk Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS28931607 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia
RS28931608 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS28931609 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Early-onset familial hypoaldosteronism
RS28931610 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS28931611 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS28931612 MEN1 Health Risk Pathogenic/Likely pathogenic Parathyroid adenoma, somatic
RS28931613 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS28931614 FGFR3 Health Risk Pathogenic Achondroplasia, Epidermal nevus
RS28931615 FGFR3 Health Risk Pathogenic Crouzon syndrome-acanthosis nigricans syndrome, Craniosynostosis syndrome
RS28932180 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS28932470 POMC Health Risk Conflicting classifications of pathogenicity Obesity due to pro-opiomelanocortin deficiency, Obesity
RS28932472 POMC Health Risk Conflicting classifications of pathogenicity Obesity, early-onset
RS28932769 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS28933068 FGFR3 Health Risk Pathogenic/Likely pathogenic Hypochondroplasia, Achondroplasia
RS28933074 GNRHR Health Risk Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS28933081 MSX1 Health Risk Pathogenic Orofacial cleft 5, Orofacial cleft 5
RS28933082 HOXD13 Health Risk Pathogenic Synpolydactyly type 1, Brachydactyly type E1
RS28933087 KRT6A Health Risk Pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS28933088 KRT17 Health Risk Pathogenic Pachyonychia congenita 2, Pachyonychia congenita 2
RS28933089 KRT17 Health Risk Pathogenic Pachyonychia congenita 2, Pachyonychia congenita 2
RS28933090 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS28933091 LMNA Health Risk Pathogenic Dilated cardiomyopathy 1A, Primary dilated cardiomyopathy
RS28933092 LMNA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1A, Primary dilated cardiomyopathy
RS28933093 LMNA Health Risk Pathogenic Dilated cardiomyopathy 1A, Primary dilated cardiomyopathy
RS28933098 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS28933100 NFKBIA Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS28933368 ERBB2 Health Risk Pathogenic Glioma susceptibility 1, Glioma susceptibility 1
RS28933369 ERBB2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS28933370 ERBB2 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS28933371 KIT Health Risk Pathogenic Piebaldism, Piebaldism
RS28933372 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, severe
RS28933373 PAX9 Health Risk Likely pathogenic Tooth agenesis, selective
RS28933374 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS28933375 PALD1;PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS28933376 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS28933377 GP9 Health Risk Likely pathogenic Bernard-Soulier syndrome type C, Bernard Soulier syndrome
RS28933378 GP9 Health Risk Likely pathogenic Bernard-Soulier syndrome type C, Bernard Soulier syndrome
RS28933381 KCNA1 Health Risk Pathogenic Myokymia 1, Myokymia 1
RS28933382 KCNA1 Health Risk Pathogenic Myokymia 1, Myokymia 1
RS28933383 KCNA1 Health Risk Pathogenic Episodic ataxia type 1, Myokymia 1
RS28933384 KCNE1 Health Risk Pathogenic Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome
RS28933385 PRNP Health Risk Pathogenic Inherited Creutzfeldt-Jakob disease, Fatal familial insomnia
RS28933386 PTPN11 Health Risk Pathogenic Noonan syndrome 1, RASopathy
RS28933389 BCHE Health Risk Conflicting classifications of pathogenicity BCHE, flouride 1
RS28933390 BCHE Health Risk Conflicting classifications of pathogenicity BCHE, fluoride 2
RS28933391 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS28933392 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, B cell-negative
RS28933394 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS28933395 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa
RS28933396 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS28933398 ATP1A2 Health Risk Pathogenic Migraine, familial hemiplegic
RS28933399 ATP1A2 Health Risk Pathogenic Migraine, familial hemiplegic
RS28933400 ATP1A2 Health Risk Likely pathogenic Migraine, familial hemiplegic
RS28933401 ATP1A2 Health Risk Likely pathogenic Migraine, familial hemiplegic
RS28933402 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS28933405 TTN Health Risk Pathogenic Hypertrophic cardiomyopathy 9, Hypertrophic cardiomyopathy 9
RS28933406 HRAS Health Risk Pathogenic/Likely pathogenic Thyroid cancer, nonmedullary
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