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
RS755139303 SNX14 Health Risk Conflicting classifications of pathogenicity —
RS755139751 IFNAR1 Health Risk Pathogenic —
RS755143548 TTN Health Risk Conflicting classifications of pathogenicity —
RS755144803 APOA5 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS755147431 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS755148474 ALS2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 2, juvenile
RS755148549 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS755148895 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS755148992 MED23 Health Risk Likely pathogenic —
RS755149967 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS755150419 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS75515097 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS755151805 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Autosomal dominant cerebellar ataxia
RS755152073 KATNIP Health Risk Conflicting classifications of pathogenicity —
RS755153044 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS755153673 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS755154133 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS755154488 CEACAM16 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS755155708 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS755155866 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases
RS755156319 GNRH1 Health Risk Pathogenic —
RS755159452 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755159728 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS755159935 SCN3A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 62
RS755160196 SNCAIP Health Risk Conflicting classifications of pathogenicity Parkinson Disease, Dominant/Recessive
RS755160503 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS755160554 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases
RS755160624 NFASC Health Risk Pathogenic Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
RS755160837 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS755161625 SMG8 Health Risk Pathogenic Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
RS755162646 LARS2 Health Risk Conflicting classifications of pathogenicity Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, LARS2-related disorder
RS755162776 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS755162836 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, PC-related disorder
RS755164013 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS755164642 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS755165065 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS755165133 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS755167641 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS755167692 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS755167957 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS755168633 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS755169246 FCSK Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2
RS755169390 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS75517067 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS755171381 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS755172155 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS755172172 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS755172663 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS755173195 MAP2K2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS755173693 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS755173952 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS755174224 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755174583 TUBGCP4 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3
RS755174598 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS755175776 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS755175825 RTN4IP1 Health Risk Pathogenic Optic atrophy 10 with or without ataxia, intellectual disability
RS755176126 KANK4 Health Risk Conflicting classifications of pathogenicity KANK4-related disorder, KANK4-related disorder
RS755176513 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS755177576 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS755177846 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS755177899 ATM Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Ataxia-telangiectasia syndrome
RS755178814 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS755178846 MYSM1 Health Risk Pathogenic —
RS755180015 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS755180090 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS755180092 MYO15A Health Risk Pathogenic —
RS755182323 CFAP20 Health Risk Likely pathogenic Rod-cone dystrophy, Rod-cone dystrophy
RS755182589 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS755182961 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS755183117 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS755183437 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS755184077 TRMT5 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 26, TRMT5-related disorder
RS755184431 CKAP2L Health Risk Pathogenic/Likely pathogenic Filippi syndrome, Filippi syndrome
RS755184801 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS755185485 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755185776 KRT2 Health Risk Conflicting classifications of pathogenicity Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
RS755186597 CYP11A1 Health Risk Pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS755186798 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS755188930 GNE Health Risk Pathogenic —
RS755189249 LRP2 Health Risk Pathogenic —
RS755190083 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS755190149 NEK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEK1-related disorder
RS755191901 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS755193129 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS755194086 SCN5A Health Risk Pathogenic —
RS755195460 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS755196112 AMHR2 Health Risk Pathogenic/Likely pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS755196320 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS755197912 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS755200044 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755200117 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS755201475 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast and/or ovarian cancer
RS755201622 OBSCN Health Risk Pathogenic —
RS755202606 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS755204306 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755205199 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS755205426 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS755205487 PRDM12 Health Risk Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS755205622 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS755206033 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
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