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
RS752017482 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752017577 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS752018806 SEC63 Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 2, Polycystic liver disease 1
RS752019151 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS752020152 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS752020408 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS752022110 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS752022363 MSTO1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS752023208 CDC45 Health Risk Pathogenic Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS752024072 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS752024467 PKD2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS752024576 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS752025180 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS752025757 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS752025877 GHR Health Risk Pathogenic —
RS752026166 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS752026731 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752027628 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS752027721 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS752028596 PHYH Health Risk Likely pathogenic —
RS752029128 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS752029300 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
RS752029455 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS752030126 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS752030320 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS752030562 TOPORS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS752030576 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS752030611 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS752031193 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752031374 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS752032044 FREM2 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS752032737 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS752032951 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS75203375 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS752034836 HPS3 Health Risk Pathogenic —
RS752034900 ACO2 Health Risk Conflicting classifications of pathogenicity OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE
RS752034960 PKLR Health Risk Conflicting classifications of pathogenicity —
RS752035001 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS752035164 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS752035788 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS752036048 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS752037034 NSD2 Health Risk Pathogenic/Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS752037101 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS752037355 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS752038684 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752038930 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS752039618 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS752039956 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS752040819 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS752041071 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS752041565 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS752041697 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS752042051 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS752042614 ABCA4 Health Risk Pathogenic —
RS752043221 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS752043324 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis
RS752044197 KIF1B Health Risk Conflicting classifications of pathogenicity —
RS752044489 KCNH1 Health Risk Conflicting classifications of pathogenicity —
RS752045093 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS752045131 ATP8B1 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 1, Cholestasis
RS752046196 SDCCAG8 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS752046508 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS752046618 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS752046733 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4
RS752046945 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS752047149 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS752050271 ADAMTSL2 Health Risk Likely pathogenic Lethal short-limb skeletal dysplasia, Al Gazali type
RS752050295 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS752051518 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS752052349 PUS3 Health Risk Likely pathogenic Heart, malformation of
RS752052590 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS752052886 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS752054011 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS752054405 CLDN1 Health Risk Pathogenic/Likely pathogenic —
RS752054698 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS752055010 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS752056340 KISS1 Health Risk Conflicting classifications of pathogenicity —
RS752057018 AMBN Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F
RS752057894 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS752058170 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS752058510 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS752059006 SACS Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Charlevoix-Saguenay spastic ataxia
RS752059469 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS752059527 NPR3 Health Risk Conflicting classifications of pathogenicity Boudin-Mortier syndrome, Boudin-Mortier syndrome
RS752060091 MFF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75206030 CTR9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752060568 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS752060724 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Generalized epilepsy with febrile seizures plus
RS752061752 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS752062224 PPA2 Health Risk Pathogenic/Likely pathogenic Sudden cardiac failure, infantile
RS752065719 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS752065721 MADD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752066122 COL11A1 Health Risk Conflicting classifications of pathogenicity Marshall syndrome, Fibrochondrogenesis 1
RS752066199 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752066259 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS752067544 MED13 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS752068052 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS752069515 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS752069645 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS752069774 SLC45A2 Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
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