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
RS761687232 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS761688859 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS761689101 LAMB2 Health Risk Likely pathogenic —
RS761689153 ABCA4 Health Risk Pathogenic —
RS761690122 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761690280 FOXRED1 Health Risk Likely pathogenic —
RS761691865 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS761692493 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS761692949 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS761694639 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS761695127 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS761695197 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS761695866 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS761696270 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS761696834 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS761696901 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS761697260 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761698437 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Spondylocarpotarsal synostosis syndrome
RS761698657 ANKH Health Risk Conflicting classifications of pathogenicity Chondrocalcinosis 2, Craniometaphyseal dysplasia
RS761698828 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS761700377 UBE3B Health Risk Likely pathogenic Oculocerebrofacial syndrome, Kaufman type
RS761700427 JAM3 Health Risk Pathogenic Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS761700756 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS761701805 SMAD4 Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS761702998 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS761703202 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS761703497 NBAS Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS761703540 HACE1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS761704205 LRP6 Health Risk Pathogenic —
RS761704292 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS761704353 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS761704401 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS761704440 APOA5 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS761707078 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS761707323 EVC2 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Ellis-van Creveld syndrome
RS761708703 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS761709212 FARS2 Health Risk Pathogenic Inborn genetic diseases, Combined oxidative phosphorylation defect type 14
RS761709401 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761709562 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS761710147 MSX1 Health Risk Pathogenic Tooth agenesis, selective
RS761710936 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS761711033 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS761712661 COL4A1 Health Risk Likely pathogenic Keratoconus, Keratoconus
RS761713195 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS761713335 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761713440 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS761713908 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS761714428 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases
RS761714818 GMPPB Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS761714859 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS761716238 IL17RA Health Risk Likely pathogenic Psoriasis, Psoriasis
RS761717148 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS761717462 LRAT Health Risk Pathogenic RETINAL DYSTROPHY, EARLY-ONSET SEVERE
RS761717909 COL4A3 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Autosomal dominant Alport syndrome
RS761718583 SLC24A1 Health Risk Pathogenic —
RS761720914 SHANK3 Health Risk Pathogenic —
RS761721442 SLC2A10 Health Risk Pathogenic/Likely pathogenic Arterial tortuosity syndrome, Thyroid cancer
RS761723354 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1
RS761724054 NEU1 Health Risk Pathogenic/Likely pathogenic Sialidosis type 2, Sialidosis type 2
RS761724581 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS761724656 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS761725308 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS761725425 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS761725498 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS761727097 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS76172717 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS761727761 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS761727821 TONSL Health Risk Pathogenic/Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS761728672 DHX38 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS761728818 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS761729007 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Inborn genetic diseases
RS761729714 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS761729774 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS761731702 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS761732432 AHI1 Health Risk Pathogenic/Likely pathogenic Rod-cone dystrophy, Joubert syndrome 3
RS761732433 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS761733547 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS761734241 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS761734438 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS761736796 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS761736983 VPS13B Health Risk Pathogenic Abnormality of the nervous system, Cohen syndrome
RS761737358 ERCC2 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive
RS761738403 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS761738511 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS761738920 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS76173977 HEXA Health Risk Pathogenic Tay-Sachs disease, Inborn genetic diseases
RS761740861 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS761741274 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS761741355 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS761741782 MTHFD1 Health Risk Pathogenic —
RS761742550 TRAIP Health Risk Likely pathogenic Seckel syndrome 9, Seckel syndrome 9
RS761743181 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS761743852 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Optic atrophy
RS761744256 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS761744291 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive complex spastic paraplegia type 9B, Autosomal recessive complex spastic paraplegia type 9B
RS761744738 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS761745929 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS761746361 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS761748258 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS761748692 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
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