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
RS765023388 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS765025514 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765026901 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS765026950 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS765027485 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS765027542 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS765027608 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS765027886 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
RS765028361 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765028553 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, SOS1-related disorder
RS765028638 NUP54 Health Risk Pathogenic Dystonia 37, early-onset
RS765028734 TNXB Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8
RS765028767 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS765030404 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Inborn genetic diseases
RS765030518 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS765031085 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS765032665 TRPM3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765033647 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765033981 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765034316 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS765034336 COL7A1 Health Risk Pathogenic —
RS765034513 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS765035454 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS765036417 SLC34A1 Health Risk Likely pathogenic —
RS765036679 FZD3 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS765037444 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS765038815 ELP1 Health Risk Pathogenic —
RS765038828 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS765040215 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, SEMA3E-related disorder
RS765043471 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS765043646 NPHP4 Health Risk Likely pathogenic Nephronophthisis 4, Nephronophthisis 4
RS765043916 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS765043940 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS765045050 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS765045862 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS765046193 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS765046399 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS765047440 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency
RS765047753 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765050364 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS765051582 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS765055351 ELANE Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Inborn genetic diseases
RS765057432 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS765059645 WDR4 Health Risk Pathogenic —
RS765059994 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS765060096 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS765060373 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS765060493 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS765060733 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS765061108 KIAA0753 Health Risk Likely pathogenic —
RS765061205 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS765061513 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS765061840 SPG11 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2X, Hereditary spastic paraplegia 11
RS765062693 UPB1 Health Risk Likely pathogenic Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS765063091 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS765063151 LRAT Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS765063390 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS765063539 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS765064597 ABCC2 Health Risk Likely pathogenic —
RS765064661 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS765064954 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS765064980 SPI1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 10, autosomal dominant
RS765065009 POGLUT1 Health Risk Pathogenic —
RS765066118 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS765067013 OTOF Health Risk Pathogenic —
RS765067070 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765067237 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS765067395 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765068619 MYH7 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS765068810 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS76506918 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS765069812 FECH Health Risk Conflicting classifications of pathogenicity Protoporphyria, erythropoietic
RS765069962 ATP1A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765070028 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS765070399 GRK1 Health Risk Likely pathogenic Retinal dystrophy, Oguchi disease-2
RS765070623 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability
RS765070743 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS765070830 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS765072095 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS765072583 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS765072736 GRIA2 Health Risk Pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS765075310 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS765075763 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS765076649 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS765077011 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS765077104 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS765079080 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS765079746 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS765079866 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS765080315 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS765080766 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS76508383 COQ9 Health Risk Conflicting classifications of pathogenicity Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, COQ9-related disorder
RS765084318 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS765084436 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS765085056 CLRN1 Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome
RS765086319 FA2H Health Risk Pathogenic Inborn genetic diseases, Hereditary spastic paraplegia
RS765088174 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS765088669 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS765089126 SLC1A4 Health Risk Pathogenic/Likely pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS765089689 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
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