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
RS756951335 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS756952499 LRP5 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4
RS756952925 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS756953635 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS756953958 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS756954694 ADGRV1 Health Risk Pathogenic —
RS756955033 TNFRSF13B Health Risk Likely pathogenic Immunodeficiency, common variable
RS756955366 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS756957223 OPTN Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 12, Glaucoma 1
RS756957362 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756957699 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS756957958 METTL23 Health Risk Likely pathogenic —
RS756958701 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756959430 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS756960425 TMC1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS756960480 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS756960968 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS756961672 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS756963289 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS756963463 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS756963751 TRMT1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 68
RS756965178 SYNJ1 Health Risk Pathogenic —
RS756967163 XPA Health Risk Pathogenic Xeroderma pigmentosum, Inborn genetic diseases
RS756967336 LHFPL5 Health Risk Pathogenic/Likely pathogenic LHFPL5-related disorder, LHFPL5-related disorder
RS756967751 PDE11A Health Risk Conflicting classifications of pathogenicity PDE11A-related disorder, Pigmented nodular adrenocortical disease
RS756968294 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756969604 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756970007 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS756970013 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
RS756970136 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS756970705 CFAP410 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy with or without macular staphyloma, Retinal dystrophy
RS756970868 ALPK3 Health Risk Conflicting classifications of pathogenicity —
RS756972061 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS756972254 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS756972680 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Hypoplastic left heart syndrome
RS756972898 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS756973019 COL17A1 Health Risk Pathogenic —
RS756973046 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS756973049 CFAP65 Health Risk Pathogenic Spermatogenic failure 40, Spermatogenic failure 40
RS756973760 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Inborn genetic diseases
RS756975501 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS756975517 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS756977393 SI Health Risk Pathogenic —
RS756977475 ECM1 Health Risk Pathogenic/Likely pathogenic Lipid proteinosis, Lipid proteinosis
RS756977900 SPAST Health Risk Pathogenic —
RS756978580 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS756978792 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS756979112 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS756979757 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS756980265 ENG Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS756980496 MMACHC Health Risk Conflicting classifications of pathogenicity METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
RS756981034 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS756981419 NTRK1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS756981729 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756981921 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Optic atrophy with or without deafness
RS756982067 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756983196 NFE2L2 Health Risk Conflicting classifications of pathogenicity —
RS756984680 KIF11 Health Risk Conflicting classifications of pathogenicity —
RS756985515 PDHX Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS756985550 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS756985703 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Autosomal recessive distal spinal muscular atrophy 1
RS756986331 CNGB3 Health Risk Pathogenic —
RS756986700 KISS1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756987454 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS756987689 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS756988113 SLC2A9 Health Risk Pathogenic Hypouricemia, renal
RS756988903 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS756989018 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS756990560 BICRA Health Risk Conflicting classifications of pathogenicity —
RS756991335 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS756991336 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS756992205 PDZD7 Health Risk Likely pathogenic —
RS756992381 KCNA2 Health Risk Conflicting classifications of pathogenicity —
RS756993002 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS756993862 PDZD7 Health Risk Conflicting classifications of pathogenicity —
RS756994633 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Autism
RS756994701 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS756995021 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS756995727 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS756995937 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS756996764 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy
RS756998073 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS756998312 FLG Health Risk Pathogenic —
RS756998699 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS756998920 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS756999080 GCNT2 Health Risk Pathogenic Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
RS756999107 RET Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, Hirschsprung disease
RS757000253 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS757001860 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS757001983 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS757003273 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS757003332 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS757003425 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757004090 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS757005556 SCO2 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS757006805 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS757006832 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757006970 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS757007148 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS757007288 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
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