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
RS537613965 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS537615209 CRB2 Health Risk Conflicting classifications of pathogenicity —
RS537628586 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS537630384 FLNB Health Risk Conflicting classifications of pathogenicity —
RS537631853 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS537643024 SIX3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly 2
RS537649538 MAP3K7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS537660741 LDB3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1C, Myofibrillar myopathy 4
RS537664532 OTOGL Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS537679678 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS537679886 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS537681304 FGF8 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS537683957 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 3A, Ichthyosis
RS537684815 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS537704873 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS537706381 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS537708830 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS537715421 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, NLRP3-related disorder
RS537717904 VIPAS39 Health Risk Conflicting classifications of pathogenicity —
RS537717947 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS537717976 SCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS537722606 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS537722828 KCNT1 Health Risk Conflicting classifications of pathogenicity Hydrocephalus, Developmental and epileptic encephalopathy
RS537723089 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS537725629 PDGFRB Health Risk Conflicting classifications of pathogenicity Acroosteolysis-keloid-like lesions-premature aging syndrome, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS537725928 SACS Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS537730311 VCP Health Risk Conflicting classifications of pathogenicity Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS537733180 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, de Barsy syndrome
RS537734228 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS537738396 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 9
RS537751924 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS537754916 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS537756121 PLCB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS537759361 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS537763400 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS537766290 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS537769519 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS537771936 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS537773004 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS537773238 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS537782818 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS537801235 TNS2 Health Risk Conflicting classifications of pathogenicity TNS2-related disorder, TNS2-related disorder
RS537814225 ALPL Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS537816710 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS537824201 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS537827975 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS537831211 ACAD8 Health Risk Likely pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS537855621 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Inborn genetic diseases
RS537863698 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS537864425 LAMC3 Health Risk Pathogenic —
RS537867998 SLC20A2 Health Risk Conflicting classifications of pathogenicity Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS537871675 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS537874171 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS537874538 RET Health Risk Likely pathogenic Multiple endocrine neoplasia, type 2
RS537893174 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS537901478 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS537901575 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS537904499 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS537906142 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS537908254 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS537908823 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS537912514 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS537915245 TRAF3IP1 Health Risk Likely pathogenic —
RS537916951 MYO18B Health Risk Pathogenic —
RS537923341 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS537930129 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS537934752 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS537944366 HBB Health Risk Conflicting classifications of pathogenicity —
RS537948663 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS537950589 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS537957080 TBX3 Health Risk Conflicting classifications of pathogenicity Ulnar-mammary syndrome, TBX3-related disorder
RS537962071 ARNT2 Health Risk Conflicting classifications of pathogenicity —
RS537966944 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS537971045 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS537981704 TMC8 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS537982877 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS537985381 LAMB3 Health Risk Conflicting classifications of pathogenicity —
RS537988425 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS537994918 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS537998274 CAVIN1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, See cases
RS538002543 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS538005366 AUTS2 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Autism
RS538013271 ABCC8 Health Risk Conflicting classifications of pathogenicity Leucine-induced hypoglycemia, Type 2 diabetes mellitus
RS538017286 SULF1 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS538023671 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS538027448 PJVK Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS538035764 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS538037262 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, ALDOB-related disorder
RS538041221 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538043826 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS538054260 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, RASopathy
RS538068134 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS538068583 SDR9C7 Health Risk Pathogenic/Likely pathogenic Congenital ichthyosis of skin, Lamellar ichthyosis
RS538083600 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS538099724 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Inborn genetic diseases
RS538101562 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS538112464 TECTA Health Risk Pathogenic —
RS538112556 NDUFV2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS538112746 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538114464 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
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