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
RS398123259 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS398123260 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS398123262 SGCB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Primary dilated cardiomyopathy
RS398123263 SGCB Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS398123264 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS398123265 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS398123267 MTM1 Health Risk Pathogenic —
RS398123268 MTM1 Health Risk Pathogenic —
RS398123270 MTM1 Health Risk Pathogenic —
RS398123271 MTM1 Health Risk Conflicting classifications of pathogenicity —
RS398123272 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS398123273 MTM1 Health Risk Pathogenic —
RS398123274 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Centronuclear myopathy
RS398123275 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS398123276 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS398123278 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS398123279 MYBPC3 Health Risk Pathogenic/Likely pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS398123280 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS398123281 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS398123283 NDP Health Risk Pathogenic/Likely pathogenic Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS398123284 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS398123285 NPHP1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome with renal defect
RS398123286 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS398123287 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS398123288 OCRL Health Risk Pathogenic —
RS398123289 OCRL Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS398123290 OCRL Health Risk Pathogenic —
RS398123292 PAH Health Risk Likely pathogenic Phenylketonuria, Inborn genetic diseases
RS398123294 PAH Health Risk Pathogenic —
RS398123295 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS398123296 PAX6 Health Risk Pathogenic —
RS398123297 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS398123298 PDE6B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 40, Autosomal recessive retinitis pigmentosa
RS398123299 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS398123300 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS398123301 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS398123302 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS398123303 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS398123305 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS398123306 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS398123307 PKD2 Health Risk Likely pathogenic —
RS398123308 PKD2 Health Risk Pathogenic Polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS398123309 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS398123310 PMM2 Health Risk Likely pathogenic —
RS398123311 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS398123312 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS398123313 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS398123314 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hepatocellular carcinoma
RS398123316 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS398123317 PTEN Health Risk Pathogenic/Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS398123318 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS398123320 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS398123321 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS398123322 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS398123323 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, Hereditary cancer-predisposing syndrome
RS398123324 PTEN Health Risk Likely pathogenic Colorectal cancer, Hereditary cancer-predisposing syndrome
RS398123325 PTEN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS398123328 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS398123329 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome
RS398123330 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS398123331 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS398123332 RB1 Health Risk Pathogenic —
RS398123333 RB1 Health Risk Pathogenic —
RS398123338 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS398123339 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Central scotoma
RS398123341 MID1 Health Risk Conflicting classifications of pathogenicity —
RS398123342 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS398123343 MID1 Health Risk Pathogenic —
RS398123347 GLB1 Health Risk Likely pathogenic —
RS398123348 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS398123349 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS398123350 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS398123351 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS398123353 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS398123354 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS398123355 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS398123356 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS398123357 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis type 3, GM1 gangliosidosis type 2
RS398123358 GLB1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, GM1 gangliosidosis
RS398123360 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS398123361 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS398123362 L1CAM Health Risk Pathogenic —
RS398123363 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS398123364 L1CAM Health Risk Pathogenic —
RS398123367 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS398123368 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Muscular dystrophy
RS398123369 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS398123371 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS398123372 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS398123373 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS398123374 LAMA2 Health Risk Conflicting classifications of pathogenicity Malignant tumor of esophagus, Familial cancer of breast
RS398123375 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS398123377 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS398123378 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS398123379 LAMA2 Health Risk Pathogenic —
RS398123380 LAMA2 Health Risk Pathogenic/Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS398123381 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS398123382 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS398123383 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Elevated circulating creatine kinase concentration
RS398123385 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
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