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
RS776745497 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776745618 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS776746330 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS776746400 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS776747142 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS776747320 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS776748227 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS776748338 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS776749406 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS776749939 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
RS776751315 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS776752006 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776752313 RFXANK Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency 1
RS776752552 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS776753352 TUB Health Risk Conflicting classifications of pathogenicity Retinal dystrophy and obesity, Retinal dystrophy and obesity
RS776753482 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS776753796 PLA2G6 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration
RS776754431 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS776756586 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS776756769 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS776757548 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B1, Inborn genetic diseases
RS776757706 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS77675851 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776758961 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS776758971 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS776759641 CLPP Health Risk Conflicting classifications of pathogenicity —
RS776759823 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS776760122 WDR4 Health Risk Pathogenic Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6
RS776761493 HSD3B2 Health Risk Pathogenic —
RS776761577 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS776763302 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776763536 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS776766270 AP4B1 Health Risk Likely pathogenic —
RS776766470 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS776766695 GP6 Health Risk Pathogenic —
RS776766717 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS776767788 PCK1 Health Risk Likely pathogenic Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS776768994 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS776769192 LAMA1 Health Risk Pathogenic/Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS776770937 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, PLCG2-related disorder
RS776772238 MYO15A Health Risk Likely pathogenic —
RS776772746 SYNE4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS776773005 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS776773238 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS776773510 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS776774212 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS776775669 SOX3 Health Risk Pathogenic Panhypopituitarism, X-linked
RS776776204 TTBK2 Health Risk Conflicting classifications of pathogenicity —
RS776776391 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS776776986 AXL Health Risk Conflicting classifications of pathogenicity —
RS776777011 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776778214 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS776778929 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS776779910 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS776780438 ZNF446 Health Risk Pathogenic Short stature, Short stature
RS776780491 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS776780527 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS776781331 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS776781462 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS776782387 KLK11 Health Risk Pathogenic Ichthyosis with erythrokeratoderma, Ichthyosis with erythrokeratoderma
RS776783618 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776785214 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS776785728 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS776786172 PDSS1 Health Risk Conflicting classifications of pathogenicity —
RS776786349 DES Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, DES-related disorder
RS776786546 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776786681 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS776787370 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS776787689 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS776788025 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS776788104 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS776788495 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS776788517 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS776788949 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS776789412 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS776789813 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS776789883 SHOX Health Risk Conflicting classifications of pathogenicity —
RS776790149 KIAA0586 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS776790336 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS776790387 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS776791010 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS776791493 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776791710 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS776793516 HNF1A Health Risk Pathogenic/Likely risk allele Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS776793553 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS776793953 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS776794549 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS776795981 ZCCHC12 Health Risk Conflicting classifications of pathogenicity —
RS776797377 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS776797528 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS776797592 NBAS Health Risk Pathogenic/Likely pathogenic Infantile liver failure, Infantile liver failure syndrome 2
RS776797595 ATOH7 Health Risk Conflicting classifications of pathogenicity —
RS77679870 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, RP1L1-related disorder
RS776800006 ABHD12 Health Risk Pathogenic/Likely pathogenic PHARC syndrome, PHARC syndrome
RS776801864 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776803163 CRPPA Health Risk Likely pathogenic CRPPA-related disorder, CRPPA-related disorder
RS776804111 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS776804142 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS776804939 CTCF Health Risk Likely pathogenic CTCF-related disorder, CTCF-related disorder
RS776805533 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
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