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
RS112035176 KATNAL2 Health Risk Conflicting classifications of pathogenicity —
RS112038099 SMARCB1 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 1, Hereditary cancer-predisposing syndrome
RS112039037 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS112041816 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS112042188 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia 1, Autosomal dominant hypocalcemia 1
RS112042777 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS112045022 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity ADAMTSL4-related disorder, ADAMTSL4-related disorder
RS112055654 SHH Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 3, Holoprosencephaly 3
RS112061124 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS112061448 PAX4 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Type 2 diabetes mellitus
RS112061837 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS112062072 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, Pancreatic adenocarcinoma
RS112062713 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Inborn genetic diseases
RS11206510 PCSK9 Health Risk association Familial hypercholesterolemia, Familial hypercholesterolemia
RS112065106 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS112066743 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS112068805 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS112070421 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, CARS2-related disorder
RS112081052 SLC2A1 Health Risk Likely pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS112081356 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS112082668 AEBP1 Health Risk Likely pathogenic AEBP1-related disorder, Ehlers-Danlos syndrome
RS112083274 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Osteogenesis imperfecta
RS112083427 TBP Health Risk Conflicting classifications of pathogenicity —
RS112084407 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Ectopia lentis 1
RS112085495 TRPM4 Health Risk Conflicting classifications of pathogenicity —
RS112085967 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112086763 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Neuronopathy
RS112089594 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS112098197 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS112101185 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Inborn genetic diseases
RS112101899 COL1A1 Health Risk Likely pathogenic COL1A1-related disorder, Osteogenesis imperfecta type I
RS112104270 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS112104768 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS112109685 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8-related disorder
RS112111568 STXBP1 Health Risk Pathogenic —
RS112113213 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Atrial fibrillation
RS112113370 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS112114400 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS112115852 GRM7 Health Risk Likely pathogenic Neurodevelopmental disorder with seizures, hypotonia
RS112118237 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS112120466 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS112122950 GPD1L Health Risk Conflicting classifications of pathogenicity Sudden cardiac death, Brugada syndrome
RS112124692 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS11212587 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS112139520 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS112144548 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS112151584 COL17A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 4
RS112155474 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS112155652 SLPI Health Risk Pathogenic Otitis media, susceptibility to
RS112157819 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS112161189 MYH11 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS112163675 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS112163941 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS112168406 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS112170602 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS112170670 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
RS112172548 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS112172952 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS112174008 PPARG Health Risk Conflicting classifications of pathogenicity PPARG-related familial partial lipodystrophy, Obesity
RS112176369 COL7A1 Health Risk Likely pathogenic —
RS112176450 EIF4G1 Health Risk risk factor Parkinson disease 18, autosomal dominant
RS112179534 MYBPC3 Health Risk Pathogenic —
RS112180170 SOX3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS112187344 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS112188483 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS112189340 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Geleophysic dysplasia
RS112194548 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS112194987 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS112195009 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, BTD-related disorder
RS112195128 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS112196241 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112196644 RYR1 Health Risk Likely pathogenic Malignant hyperthermia of anesthesia, Malignant hyperthermia of anesthesia
RS112199174 PHF6 Health Risk Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases
RS112199774 BEST1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, BEST1-related disorder
RS112199960 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS112200342 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS112200356 REEP6 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS112202622 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS112204566 COL4A4 Health Risk Pathogenic Benign familial hematuria, Benign familial hematuria
RS112206586 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS112209600 QDPR Health Risk Conflicting classifications of pathogenicity Dihydropteridine reductase deficiency, Inborn genetic diseases
RS112209873 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, CEP164-related disorder
RS112210581 NDUFS6 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS112213336 POC1A Health Risk Conflicting classifications of pathogenicity Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
RS112215250 TGFBR2 Health Risk Conflicting classifications of pathogenicity Congenital aneurysm of ascending aorta, Familial thoracic aortic aneurysm and aortic dissection
RS112217391 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS112217896 VIPAS39 Health Risk Conflicting classifications of pathogenicity VIPAS39-related disorder, VIPAS39-related disorder
RS112220743 GRM8 Health Risk Conflicting classifications of pathogenicity GRM8-related disorder, GRM8-related disorder
RS112224037 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS112224872 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS112226008 CNOT1 Health Risk Conflicting classifications of pathogenicity CNOT1-related disorder, Inborn genetic diseases
RS112226602 RBM20 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD
RS112227999 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS112231082 CDC14A Health Risk Conflicting classifications of pathogenicity CDC14A-related disorder, Familial cancer of breast
RS112231246 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS112235354 STK11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS112236248 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS112237881 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCA-related disorder
RS112239768 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS112240298 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
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