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
RS751656037 STUB1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS751656678 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS751656896 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS751657066 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS751657094 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS751657802 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS751658286 GGN Health Risk Pathogenic Spermatogenic failure 69, Spermatogenic failure 69
RS751659671 GLRA1 Health Risk Pathogenic/Likely pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS751661904 PDE6B Health Risk Likely pathogenic —
RS751662353 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751662930 GRIK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751662952 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 4
RS751663397 CDC45 Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS751663413 ARSG Health Risk Pathogenic Usher syndrome, type 4
RS751664776 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS75166491 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS751665904 LHX4 Health Risk Conflicting classifications of pathogenicity Short stature-pituitary and cerebellar defects-small sella turcica syndrome, LHX4-related disorder
RS751666292 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS751667290 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS751669145 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS751669616 CTNS Health Risk Conflicting classifications of pathogenicity Nephropathic cystinosis, Nephropathic cystinosis
RS751670999 PRMT7 Health Risk Conflicting classifications of pathogenicity Short stature-brachydactyly-obesity-global developmental delay syndrome, Inborn genetic diseases
RS751671175 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS751672400 DRC2 Health Risk Likely pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS751673587 IL1RAPL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751674101 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751674187 DNMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary sensory neuropathy-deafness-dementia syndrome
RS751674819 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS751675124 IFNAR1 Health Risk Conflicting classifications of pathogenicity —
RS751675183 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS751675713 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751675724 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS751675949 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS751676054 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS751676137 POLG Health Risk Conflicting classifications of pathogenicity Alpers-like hepatocerebral syndrome, Progressive sclerosing poliodystrophy
RS751676482 FKRP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
RS751676545 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Inborn genetic diseases
RS751676774 HIBCH Health Risk Pathogenic/Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS751676813 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS751677125 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS751677429 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS751677491 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS751677704 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS751677905 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS751678290 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Lowe syndrome
RS751678723 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS751679113 RTTN Health Risk Likely pathogenic —
RS751680143 STAG3 Health Risk Likely pathogenic Spermatogenesis maturation arrest, Non-obstructive azoospermia
RS751680149 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS751680308 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS751681905 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS751682861 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS751683516 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS751683541 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS751684559 LAMA3 Health Risk Likely pathogenic —
RS751688085 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Myosclerosis
RS751690064 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751690259 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Inborn genetic diseases
RS751690452 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Inborn genetic diseases
RS751691380 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS751691446 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS751691851 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS751692413 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS751692491 PTCHD1 Health Risk Likely pathogenic Autism, susceptibility to
RS751692515 CPLANE1 Health Risk Likely pathogenic —
RS751692931 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS751693310 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS751693653 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS751695203 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS751696120 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS751696703 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis
RS751696722 GRM6 Health Risk Pathogenic —
RS751697681 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS751698154 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751699392 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS751699482 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS751701114 GUCY1A1 Health Risk Pathogenic Moyamoya disease with early-onset achalasia, Moyamoya disease 1
RS751701388 PATL2 Health Risk Pathogenic Oocyte maturation defect 4, Oocyte maturation defect 4
RS751701564 SKIC3 Health Risk Pathogenic —
RS751702841 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS751703046 CAVIN4 Health Risk Conflicting classifications of pathogenicity —
RS751703979 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS751704232 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS751704331 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS751707041 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS751707090 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS751707679 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS751707982 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS751708490 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS751708515 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS751709130 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS751709708 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS751709941 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS751710019 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS751710099 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS751710756 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS751710854 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Breast-ovarian cancer
RS751712181 GOSR2 Health Risk Pathogenic Muscular dystrophy, congenital
RS751712837 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS751713049 SRSF2 Health Risk Pathogenic Acute megakaryoblastic leukemia in down syndrome, Atypical chronic myeloid leukemia
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