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
RS756643740 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS756643992 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS756644243 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS756644736 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS756646001 CYP11B1 Health Risk Pathogenic —
RS756646242 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756646275 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS756646859 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS756647770 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease
RS756648434 ABHD12 Health Risk Conflicting classifications of pathogenicity —
RS756649389 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS756650711 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS756650754 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS756650860 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS756651509 NLGN4X Health Risk Pathogenic Autism, susceptibility to
RS756651881 ARFGEF2 Health Risk Conflicting classifications of pathogenicity —
RS756652448 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS756653022 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS756653193 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS756653973 NDUFV2 Health Risk Pathogenic —
RS756654236 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS756654353 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS756655815 ARMC9 Health Risk Likely pathogenic —
RS756656101 CTSC Health Risk Pathogenic Haim-Munk syndrome, Periodontitis
RS756656568 PIBF1 Health Risk Pathogenic —
RS756658659 RHO Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Retinitis pigmentosa 4
RS756659230 POGZ Health Risk Pathogenic/Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS756659644 SCN11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 7
RS756660023 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS756663688 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS756663759 HSD3B2 Health Risk Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS756663920 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS75666426 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 5
RS756664489 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS756664556 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS756664985 TREX1 Health Risk Pathogenic/Likely pathogenic TREX1-related disorder, Aicardi-Goutieres syndrome 1
RS756665749 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS756667241 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS756667462 WFS1 Health Risk Uncertain significance/Uncertain risk allele WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS756667927 CSF3R Health Risk Pathogenic/Likely pathogenic Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS756668931 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756670611 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS756670728 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Dent disease type 2
RS756671027 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS756671283 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS756671977 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS756672167 IL1RAPL1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 21
RS756672670 COL4A4 Health Risk Pathogenic —
RS756673077 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS756674688 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS756674774 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS756675105 TTN Health Risk Conflicting classifications of pathogenicity —
RS756675225 LIFR Health Risk Pathogenic Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1
RS756675414 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS756675590 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS756676111 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS756676209 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS756676536 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Inborn genetic diseases
RS756677425 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS756677845 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS756678484 CDHR1 Health Risk Pathogenic Retinitis pigmentosa 65, Retinal dystrophy
RS756678889 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinal dystrophy
RS756679779 GNPTG Health Risk Pathogenic —
RS756680042 RDH5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS756680048 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS756681683 PTEN Health Risk Conflicting classifications of pathogenicity Cowden syndrome 1, Hereditary cancer-predisposing syndrome
RS756682607 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS756683242 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756684256 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS756684628 CSF1R Health Risk Conflicting classifications of pathogenicity Brain abnormalities, neurodegeneration
RS756684680 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS756685605 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia
RS756685797 GYS2 Health Risk Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS756686115 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Meckel-Gruber syndrome
RS756686919 ZEB2 Health Risk Pathogenic/Likely pathogenic —
RS756687157 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS756687932 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS756689063 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS756689732 PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS756690468 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, de Barsy syndrome
RS756690487 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, GALC-related disorder
RS756690615 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS756690940 TRPM1 Health Risk Likely pathogenic —
RS756691187 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS756691827 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS756692067 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS756692170 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS756692340 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS756692505 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS756692621 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS756693072 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS756693906 EMX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756694090 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS756694303 THAP1 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 6, Inborn genetic diseases
RS756694568 COL9A2 Health Risk Conflicting classifications of pathogenicity COL9A2-related disorder, Epiphyseal dysplasia
RS756694755 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS756694972 RAG2 Health Risk Pathogenic/Likely pathogenic Recombinase activating gene 2 deficiency, Inborn error of immunity
RS756695526 DRP2 Health Risk Conflicting classifications of pathogenicity —
RS756696262 RARS2 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS756696562 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
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