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
RS766227083 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS766227557 PTCH1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS766228902 RFWD3 Health Risk Conflicting classifications of pathogenicity —
RS766229168 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766229978 OTOG Health Risk Conflicting classifications of pathogenicity —
RS766231298 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS766232161 SLC1A4 Health Risk Conflicting classifications of pathogenicity Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS766232837 GALNT3 Health Risk Conflicting classifications of pathogenicity —
RS766232933 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS766234016 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS766234350 HESX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Septo-optic dysplasia sequence
RS766234642 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS766235917 SZT2 Health Risk Pathogenic —
RS766236522 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS766237791 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS766238385 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766239144 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS766239881 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS766240294 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS766240417 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS766240657 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS766241071 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS766241260 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS766241881 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS766242199 PC Health Risk Pathogenic/Likely pathogenic Pyruvate carboxylase deficiency, Thrombophilia due to protein C deficiency
RS766243664 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS766243954 APOB Health Risk Pathogenic/Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS766244312 COG8 Health Risk Likely pathogenic COG8-congenital disorder of glycosylation, COG8-related disorder
RS766244944 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766246531 PROM1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 41, Retinal dystrophy
RS766249735 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
RS766249962 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS766250454 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS766250601 AEBP1 Health Risk Likely pathogenic —
RS766250689 KCNJ16 Health Risk Likely pathogenic Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
RS766251338 AARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Colon adenocarcinoma
RS766251466 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS766251541 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS766254024 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS766254214 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS766256094 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS766256171 TERB1 Health Risk Pathogenic Azoospermia, Azoospermia
RS766256391 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766256429 NPR2 Health Risk Conflicting classifications of pathogenicity Short stature with nonspecific skeletal abnormalities, Acromesomelic dysplasia 1
RS766257849 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS766257867 ASAH1 Health Risk Conflicting classifications of pathogenicity Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
RS766258051 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766259648 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS76625999 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS766261022 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS766264473 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS76626460 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS766264810 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 9A, Cutis laxa
RS766265410 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis
RS766265889 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Cardiomyopathy
RS766266851 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS766266918 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS766270336 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS766270982 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS766271753 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS766273160 TRMT5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766273161 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, Inborn genetic diseases
RS766273613 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS766274915 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS766274999 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS766275230 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS766277488 SBDS Health Risk Conflicting classifications of pathogenicity Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
RS766278192 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS766278489 RLBP1 Health Risk Pathogenic Newfoundland cone-rod dystrophy, Retinitis punctata albescens
RS766279277 CPAMD8 Health Risk Pathogenic —
RS766279442 FANCF Health Risk Pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS766279840 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766279884 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766279892 LRAT Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 14, Leber congenital amaurosis 14
RS766280701 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS766282869 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS766282946 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS766283832 COX15 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS766284226 FZD6 Health Risk Pathogenic Nonsyndromic congenital nail disorder 1, Nonsyndromic congenital nail disorder 1
RS766285158 ABCB11 Health Risk Likely pathogenic Familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS766285443 CEP290 Health Risk Pathogenic/Likely pathogenic CEP290-related disorder, Joubert syndrome 5
RS766285779 NPHP3 Health Risk Conflicting classifications of pathogenicity —
RS766286119 DLD Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Pyruvate dehydrogenase complex deficiency
RS766286901 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS766287925 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS766288440 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS766288973 TXNRD2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS766289147 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS766291321 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766291662 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS766292710 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS766294940 RNASEH1 Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
RS766294997 F7 Health Risk Pathogenic/Likely pathogenic —
RS766295044 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS766296358 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS766297596 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 1
RS766297775 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS766298096 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS766298777 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS766298888 GMPPB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2T
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