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
RS140180561 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1401805753 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1401810953 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS1401811144 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS140181682 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, AMPD1-related disorder
RS1401818080 HGSNAT Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 73
RS140182370 LRP6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic liver disease, Inborn genetic diseases
RS1401825950 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1401829291 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS140183285 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases
RS1401834885 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1401839892 CTNNA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, CTNNA1-associated FEVR
RS140184279 VARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS140184929 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS140186161 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS1401866270 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1401870617 OTOG Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS140187237 EP300 Health Risk Conflicting classifications of pathogenicity Intellectual disability, EP300-related disorder
RS1401878479 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS140188204 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS1401882647 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS140188898 CD2AP Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 3, susceptibility to
RS140188939 TYROBP Health Risk Conflicting classifications of pathogenicity TYROBP-related disorder, TYROBP-related disorder
RS1401892400 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS140189724 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS140190002 CLDN19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Renal hypomagnesemia 5 with ocular involvement
RS1401903524 MAPT Health Risk Conflicting classifications of pathogenicity —
RS140190776 F11 Health Risk Likely pathogenic Plasma factor XI deficiency, F11-related disorder
RS140191063 TCIRG1 Health Risk Conflicting classifications of pathogenicity TCIRG1-related disorder, TCIRG1-related disorder
RS140191153 PSMD12 Health Risk Likely pathogenic Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
RS140191309 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS140191346 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS140192152 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, Inborn genetic diseases
RS140192228 RPL3L Health Risk Conflicting classifications of pathogenicity —
RS140192398 SPATA7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 3
RS1401924846 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1401928680 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS140193292 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS140194114 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS140194348 C2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 14, Complement component 2 deficiency
RS1401949733 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1401956029 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Inborn genetic diseases
RS140195786 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS140196414 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS140196536 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS140196582 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS140198185 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1401986830 MAGEL2 Health Risk Likely pathogenic —
RS1401990024 CCP110 Health Risk Likely pathogenic See cases, See cases
RS140199177 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS140199241 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1401992478 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS140200789 SLC26A2 Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type II, Diastrophic dysplasia
RS140201404 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS140201636 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS140202046 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS140202230 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Type IV short rib polydactyly syndrome
RS140202346 TUBA8 Health Risk Conflicting classifications of pathogenicity Polymicrogyria with optic nerve hypoplasia, Polymicrogyria with optic nerve hypoplasia
RS140202512 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS140202552 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Proteinuria
RS140202670 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS140202819 CLSTN2 Health Risk Conflicting classifications of pathogenicity —
RS140202956 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, USH2A-related disorder
RS1402031100 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1402033817 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS140204495 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS140205115 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS140205536 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1402071263 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS140207251 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS140207606 ABCG2 Health Risk association BLOOD GROUP, JUNIOR SYSTEM
RS140208002 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Neuronopathy
RS140208061 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS140208362 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy
RS1402086660 RUSC2 Health Risk Pathogenic Intellectual disability, autosomal recessive 61
RS140208683 ENTREP1 Health Risk Conflicting classifications of pathogenicity —
RS1402090677 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS140209136 CFAP418 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 16
RS1402092076 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS1402092579 TBK1 Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Amyotrophic lateral sclerosis
RS140209484 SH3PXD2B Health Risk Conflicting classifications of pathogenicity —
RS1402095850 TRAPPC9 Health Risk Conflicting classifications of pathogenicity —
RS140210148 SLC26A8 Health Risk Pathogenic Spermatogenic failure 3, Spermatogenic failure 3
RS140211194 PIGL Health Risk Conflicting classifications of pathogenicity CHIME syndrome, CHIME syndrome
RS1402132413 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS1402133337 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS140213840 MMP20 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A2, MMP20-related disorder
RS1402138776 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS1402140155 HADH Health Risk Pathogenic/Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS140214637 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group U
RS1402147578 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS140215004 CACNA1D Health Risk Conflicting classifications of pathogenicity Sinoatrial node dysfunction and deafness, Aldosterone-producing adenoma with seizures and neurological abnormalities
RS1402161985 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1402162002 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1402167763 TYR Health Risk Likely pathogenic TYR-related disorder, TYR-related disorder
RS1402168594 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS140217223 FTCD Health Risk Pathogenic Glutamate formiminotransferase deficiency, Inborn genetic diseases
RS1402175424 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1402176902 NOTCH3 Health Risk Pathogenic —
RS1402177037 MME Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
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