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
RS762292061 F2 Health Risk Pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS762292335 RSPH9 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762292619 CLCN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hyperaldosteronism type II
RS762292772 SHANK3 Health Risk Pathogenic/Likely pathogenic Phelan-McDermid syndrome, Inborn genetic diseases
RS762294904 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS762297266 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS762297795 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS762297923 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS762299598 COL6A1 Health Risk Likely pathogenic —
RS762299976 VCAN Health Risk Conflicting classifications of pathogenicity Myopia 25, autosomal dominant
RS762301873 ZNF469 Health Risk Likely pathogenic Cardiovascular phenotype, Ehlers-Danlos syndrome
RS762302341 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77
RS762302707 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS762302738 KAT6A Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, History of neurodevelopmental disorder
RS762303621 MEN1 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism, Multiple endocrine neoplasia
RS762304556 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Dystonia 5
RS762304847 GFI1B Health Risk Pathogenic Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
RS762305947 LAMP2 Health Risk Conflicting classifications of pathogenicity LAMP2-related disorder, LAMP2-related disorder
RS762306750 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS762307622 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS762308378 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS762309206 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
RS762310676 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS762311530 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Schöpf-Schulz-Passarge syndrome
RS762312642 FBN1 Health Risk Conflicting classifications of pathogenicity Stiff skin syndrome, Ectopia lentis 1
RS762313482 THBD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762313648 GRHPR Health Risk Conflicting classifications of pathogenicity Nephrolithiasis/nephrocalcinosis, Primary hyperoxaluria
RS762313659 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS762314080 NBEA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762314534 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS762314651 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS762315953 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS762316414 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS762317674 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN1A-related disorder
RS762320051 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS762320484 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS762321137 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS762321473 TBX6 Health Risk Likely pathogenic Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
RS762322213 VLDLR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762322858 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS762323327 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS762324196 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS762324548 PEX1 Health Risk Pathogenic/Likely pathogenic Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger)
RS762326108 RLBP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS762327114 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS762327241 C6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762327635 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS762327729 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS762329183 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762330685 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS762331610 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS762332809 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS762334108 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS762334378 TBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay
RS762334457 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS762334514 CPLANE1 Health Risk Likely pathogenic Joubert syndrome, Orofaciodigital syndrome type 6
RS762334954 OBSL1 Health Risk Pathogenic 3M syndrome 2, 3M syndrome 2
RS762336160 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS762336270 NOTCH1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Adams-Oliver syndrome 5
RS762336297 NPHS2 Health Risk Pathogenic Idiopathic nephrotic syndrome, Nephrotic syndrome
RS762336338 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS762339011 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS762341335 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS762341786 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS762342110 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS762342197 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS762342379 ARSK Health Risk Pathogenic Mucopolysaccharidosis, type 10
RS762343454 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS762344462 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS762345055 DOK7 Health Risk Pathogenic/Likely pathogenic Abnormality of the musculature, Congenital myasthenic syndrome 10
RS762346634 ABCC2 Health Risk Pathogenic Inborn genetic diseases, Dubin-Johnson syndrome
RS762347776 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS762348061 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS762349361 ATAD3A Health Risk Likely pathogenic —
RS762351406 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS762352013 SACS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS762352115 MARVELD2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 49, Rare genetic deafness
RS762352116 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS762352363 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Donnai-Barrow syndrome
RS762354041 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS762354802 TRIM24 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS762354873 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS762355724 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS762356801 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS762356843 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, KMT2C-related disorder
RS762357071 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS762358335 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS762358589 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS762359799 NYX Health Risk Pathogenic —
RS762361277 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS762361602 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS762362960 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma
RS762363112 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Incidental Discovery
RS762363452 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS762363654 POC1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762365764 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS762366252 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS762366874 CCT2 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Leber congenital amaurosis
RS762367899 CEACAM16 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4B, Autosomal dominant nonsyndromic hearing loss 4B
RS762368225 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
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