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
RS757121012 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS757121451 ANO6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757121533 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Idiopathic Pulmonary Fibrosis
RS757121861 TWIST1 Health Risk Conflicting classifications of pathogenicity TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS757122064 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS757123477 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS757123504 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS757123597 TCTN2 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS757123788 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS757124361 INS Health Risk Pathogenic/Likely pathogenic Diabetes mellitus, permanent neonatal 4
RS757124444 SLC34A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS757124573 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS757125254 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS757126340 CPT2 Health Risk Pathogenic Encephalopathy, acute
RS757126788 DTNBP1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7
RS757126911 CHCHD2 Health Risk Conflicting classifications of pathogenicity —
RS757127216 TBCE Health Risk Conflicting classifications of pathogenicity —
RS757127350 MPDZ Health Risk Pathogenic —
RS757127359 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS757128530 ALMS1 Health Risk Pathogenic —
RS757128699 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS757128712 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS757129250 TTN Health Risk Conflicting classifications of pathogenicity —
RS757130394 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS757131212 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757131811 ARMC9 Health Risk Pathogenic —
RS757131925 MSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757131983 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS757134420 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS757134452 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS757134784 MAP3K20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757134877 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS757135168 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS757135353 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS757135518 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757135576 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS757136675 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS757137077 SCNN1B Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS757137398 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS757137562 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS757137642 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757138454 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757139057 NPHP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome with renal defect, Senior-Loken syndrome 1
RS757139110 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS757139246 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS757139660 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS757140336 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS757141480 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS757141627 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS757141641 IFT74 Health Risk Pathogenic —
RS757141700 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS757141816 ABCA12 Health Risk Pathogenic —
RS757142781 CD36 Health Risk Pathogenic/Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS757143203 NCDN Health Risk Conflicting classifications of pathogenicity —
RS757143381 VLDLR Health Risk Pathogenic —
RS757143429 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS757145297 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS757145884 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS757146083 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS757147440 SPTA1 Health Risk Pathogenic/Likely pathogenic Pyropoikilocytosis, hereditary
RS757147586 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Cone dystrophy
RS757147765 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757148270 MTRFR Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Combined oxidative phosphorylation defect type 7
RS757148418 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS757148516 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS757148522 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS757148837 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS757149542 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS757151992 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS757152182 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS757154079 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS757154662 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 2A
RS757155193 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS757155232 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS757156390 ADCY5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS757157176 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS757157750 RYR1 Health Risk Conflicting classifications of pathogenicity Myalgia, Exercise-induced myalgia
RS757157808 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS757158425 SLC4A1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS757158654 SOST Health Risk Likely pathogenic Sclerosteosis 1, Sclerosteosis 1
RS757158876 CEP250 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS757159382 KCNJ10 Health Risk Pathogenic EAST syndrome, EAST syndrome
RS757159551 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757160024 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS757160222 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS757160341 MED12 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Familial thoracic aortic aneurysm and aortic dissection
RS757160554 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS757162652 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS757162805 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757163581 USH1C Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS757164022 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS757164153 SLC35B2 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS757164371 FKBP14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type
RS757164431 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757164724 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS757165158 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS757165791 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS757167361 DPH1 Health Risk Pathogenic/Likely pathogenic Developmental delay with short stature, dysmorphic facial features
RS757167624 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS757168691 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
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