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
RS749636258 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS749636302 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related disorder, Inborn genetic diseases
RS749637005 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS749637114 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS749637413 LAT Health Risk Pathogenic Severe combined immunodeficiency due to LAT deficiency, Severe combined immunodeficiency due to LAT deficiency
RS749638533 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS749638821 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Episodic ataxia type 2
RS749640233 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS749642726 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749643952 MINPP1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia, type 16
RS749644081 LGI3 Health Risk Pathogenic Peripheral nerve hyperexcitability syndrome, Peripheral nerve hyperexcitability syndrome
RS749645231 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS749645437 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS749645694 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS749646225 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS749646388 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS749647281 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS749647393 SUCLG2 Health Risk Conflicting classifications of pathogenicity —
RS749647897 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS749647961 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS749648136 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749648175 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749648996 POGZ Health Risk Conflicting classifications of pathogenicity Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Inborn genetic diseases
RS749650201 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS749650642 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749651486 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS749652788 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS749653922 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS749654470 GJB3 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 1, Inborn genetic diseases
RS749655119 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS749655305 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS749655460 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS749655461 CRADD Health Risk Pathogenic Intellectual disability, autosomal recessive 34
RS749655544 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS749656305 ATR Health Risk Pathogenic —
RS749656679 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS749656742 SNX14 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS749657135 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Inborn genetic diseases
RS749657231 ACACA Health Risk Pathogenic Acetyl-CoA: carboxylase deficiency, Acetyl-CoA: carboxylase deficiency
RS749657417 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS749657465 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS749657986 ROGDI Health Risk Likely pathogenic Amelocerebrohypohidrotic syndrome, Gastric cancer
RS749660228 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS749660716 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency
RS749661379 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS749661458 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS749662138 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS749662385 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS749662916 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, Dubin-Johnson syndrome
RS749663089 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS749663451 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS749663645 PSAP Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Sphingolipid activator protein 1 deficiency
RS749665611 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
RS749666237 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome type 1D
RS749666514 AARS2 Health Risk Pathogenic Leukoencephalopathy, progressive
RS749666891 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, PKD2-related disorder
RS749667083 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1AA
RS749667453 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS749667892 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia
RS749668601 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Atrial fibrillation
RS749668781 SLC52A3 Health Risk Conflicting classifications of pathogenicity Progressive bulbar palsy of childhood, SLC52A3-related disorder
RS749669162 PRPF6 Health Risk Conflicting classifications of pathogenicity —
RS749669269 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS749670160 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS749670394 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS749670705 IFT122 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Cranioectodermal dysplasia 1
RS749671160 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS749671520 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS749671711 CDT1 Health Risk Pathogenic —
RS749672259 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS749672954 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS749673513 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS749673816 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS749674325 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS749675822 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS749676675 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS749677037 FAM111A Health Risk Conflicting classifications of pathogenicity —
RS749677218 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS749678010 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS749678495 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS749678590 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS749679347 CWF19L1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS749679496 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS749679693 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS749680674 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Inborn genetic diseases
RS749681016 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS749681216 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS749681373 NUBPL Health Risk Pathogenic —
RS749681584 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Febrile seizures
RS749681815 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749682166 DSP Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS749682730 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS749683153 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Tuberous sclerosis 1
RS749683290 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS749684443 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS749687427 RIGI Health Risk Conflicting classifications of pathogenicity —
RS749688050 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS749688157 EDAR Health Risk Likely pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS749689428 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749690330 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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