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
RS61740138 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS61740165 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS61740212 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CRB2-related disorder
RS61740250 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS61740253 RUSC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 61
RS61740284 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS61740289 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 13, Retinal dystrophy
RS61740381 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS61740429 NMNAT1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 9, Inborn genetic diseases
RS61740517 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, 8 conditions
RS61740537 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS61740622 IL17RD Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS61740738 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS61740824 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS61740825 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS61741025 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, AMPD1-related disorder
RS61741123 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Familial hemiplegic migraine
RS61741147 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Acroleukopathy
RS61741164 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS61741347 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS61741547 NIN Health Risk Conflicting classifications of pathogenicity NIN-related disorder, NIN-related disorder
RS61741581 DDB2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group E
RS61741609 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS61741781 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS61741838 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS61741974 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS61741984 GLIS1 Health Risk Conflicting classifications of pathogenicity —
RS61742006 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61742045 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS61742059 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS61742096 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS61742191 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS61742258 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS61742271 ZYX Health Risk Conflicting classifications of pathogenicity —
RS61742313 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61742323 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS61742331 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS61742381 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS61742428 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 58, Retinitis pigmentosa
RS61742726 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS61742739 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, SLC5A2-related disorder
RS61742789 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS61742801 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS61742851 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS61742871 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS61742872 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
RS61742914 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS61742937 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS61742990 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS61743014 TANC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61743088 ROS1 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Ovarian serous cystadenocarcinoma
RS61743169 SLC22A12 Health Risk Conflicting classifications of pathogenicity SLC22A12-related disorder, SLC22A12-related disorder
RS61743239 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, ITK-related disorder
RS61743240 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS61743299 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS61743313 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS61743394 POP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, POP1-related disorder
RS61743502 APOB Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS61743512 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS61743560 CNOT3 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Intellectual developmental disorder with speech delay
RS61743618 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS61743653 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS61743674 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS61743702 F12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61743749 ACACA Health Risk Conflicting classifications of pathogenicity ACACA-related disorder, ACACA-related disorder
RS61743849 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS61743881 CCDC88C Health Risk Conflicting classifications of pathogenicity CCDC88C-related disorder, CCDC88C-related disorder
RS61744000 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Uterine corpus endometrial carcinoma
RS61744094 FREM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61744141 TTC28 Health Risk Conflicting classifications of pathogenicity TTC28-related disorder, TTC28-related disorder
RS61744153 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS61744288 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS61744348 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS61744386 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS61744444 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Inborn genetic diseases
RS61744448 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS61744449 SETD1A Health Risk Pathogenic/Likely pathogenic Epilepsy, early-onset
RS61744480 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS61744521 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS61744606 SH3KBP1 Health Risk Conflicting classifications of pathogenicity —
RS61744648 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS61744666 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS61744855 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS61745086 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS61745095 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS61745113 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS61745147 CYB5R3 Health Risk Conflicting classifications of pathogenicity Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
RS61745150 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Inborn genetic diseases
RS61745161 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61745355 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8
RS61745409 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS61745496 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS61745503 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2
RS61745524 CYP4V2 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Bietti crystalline corneoretinal dystrophy
RS61745528 SCUBE3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61745540 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS61745556 PKHD1L1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124
RS61745591 PPCS Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, dilated
RS61745604 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61745612 FREM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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