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
RS538121526 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS538127756 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS538135467 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS538145374 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS538147505 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Inborn genetic diseases
RS538170367 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
RS538170642 SPEG Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS538173069 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS538178628 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS538192254 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS538193392 CHRNA3 Health Risk Conflicting classifications of pathogenicity CHRNA3-related disorder, Urinary bladder
RS538193441 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS538198742 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS538199862 ARFGEF2 Health Risk Conflicting classifications of pathogenicity —
RS538216424 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS538220975 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS538224852 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS538229806 SGCD Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS538230198 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS538231044 DPYS Health Risk Conflicting classifications of pathogenicity —
RS538236343 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS538243333 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS538244011 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS538245770 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS538250432 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS538251591 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS538252151 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538252193 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS538255620 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS538261513 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS538267691 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS538274657 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS538280815 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS538289470 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Desmoid disease
RS538290084 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, THBD-related disorder
RS538311710 ALS2 Health Risk Likely pathogenic ALS2-related motor neuron disease, ALS2-related motor neuron disease
RS538329212 MICU1 Health Risk Pathogenic Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
RS538330477 BMP4 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 11, Microphthalmia with brain and digit anomalies
RS538330756 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Inborn genetic diseases
RS538330967 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS538335897 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS538338106 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538343832 FLVCR1 Health Risk Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS538344879 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS538351542 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS538372427 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS538372785 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS538373943 NDE1 Health Risk Conflicting classifications of pathogenicity —
RS538383136 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS538383901 TRAF3IP1 Health Risk Pathogenic —
RS538385307 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS538387822 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS538388889 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS538389475 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS538390338 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS538392483 ERCC6L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ERCC6L2-related disorder
RS538400808 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS538406713 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS538412810 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease
RS538425732 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538443416 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS538443920 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS538452060 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS538478136 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS538480165 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS538482143 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS538488005 VWF Health Risk Likely pathogenic —
RS538497899 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS538500669 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS538506091 DOCK6 Health Risk Likely pathogenic Adams-Oliver syndrome 2, Nonpapillary renal cell carcinoma
RS538506408 ROBO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538507117 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype
RS538513229 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538516291 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS538519269 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS538524761 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS538538654 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS538539239 NANOS1 Health Risk Pathogenic Spermatogenic failure 12, Spermatogenic failure 12
RS538543007 CANT1 Health Risk Pathogenic/Likely pathogenic Desbuquois dysplasia 1, Epiphyseal dysplasia
RS538561788 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS538571038 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS538571144 GARS1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS538571617 ELANE Health Risk Likely pathogenic Cyclical neutropenia, Neutropenia
RS538572480 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS538573274 GRID2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538589589 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS538591288 ABCA7 Health Risk Conflicting classifications of pathogenicity ABCA7-related disorder, ABCA7-related disorder
RS538591733 TSPAN12 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS538602187 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS538606142 PROKR2 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS538614702 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS538619966 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS538621911 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS538628701 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538632717 KIF19 Health Risk Pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS538635135 IFT122 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Cranioectodermal dysplasia 1
RS538635871 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS538640563 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Inborn genetic diseases
RS538641703 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS538642538 DPYS Health Risk Conflicting classifications of pathogenicity Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
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