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
RS398123387 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS398123388 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS398123389 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS398123390 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS398123391 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS398123392 NEU1 Health Risk Pathogenic/Likely pathogenic Sialidosis, Sialidosis type 2
RS398123394 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS398123397 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS398123398 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS398123401 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS398123402 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS398123405 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS398123406 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS398123408 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS398123409 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS398123411 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS398123412 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS398123413 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, ARSA-related disorder
RS398123414 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS398123415 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS398123416 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS398123418 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS398123419 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS398123420 ATRX Health Risk Pathogenic/Likely pathogenic Alpha-thalassemia/intellectual disability syndrome, Alpha-thalassemia/intellectual disability syndrome
RS398123422 ATRX Health Risk Pathogenic —
RS398123424 ATRX Health Risk Pathogenic —
RS398123425 ATRX Health Risk Pathogenic/Likely pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS398123428 ATRX Health Risk Pathogenic —
RS398123429 GALNS Health Risk Pathogenic Morquio syndrome, Mucopolysaccharidosis
RS398123430 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS398123431 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS398123432 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS398123434 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS398123435 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS398123437 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS398123438 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS398123439 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS398123440 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS398123441 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS398123443 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS398123444 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS398123445 HEXB Health Risk Pathogenic —
RS398123446 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS398123447 HEXB Health Risk Likely pathogenic —
RS398123448 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS398123450 HEXB Health Risk Likely pathogenic —
RS398123455 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS398123456 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS398123457 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS398123460 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS398123461 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCB-related disorder
RS398123462 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS398123463 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS398123464 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS398123466 PLP1 Health Risk Likely pathogenic —
RS398123467 PLP1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS398123469 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS398123470 RYR1 Health Risk Conflicting classifications of pathogenicity —
RS398123471 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Centronuclear myopathy
RS398123472 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS398123473 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS398123474 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS398123475 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS398123476 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS398123478 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS398123479 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS398123481 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS398123482 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS398123483 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS398123486 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123489 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123490 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123491 BCKDHA Health Risk Pathogenic —
RS398123492 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123493 BCKDHA Health Risk Pathogenic —
RS398123494 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS398123495 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS398123496 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123497 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123498 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123499 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123503 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123504 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS398123505 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123508 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123509 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123510 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS398123512 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS398123513 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123514 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123515 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398123517 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS398123518 CACNA1C Health Risk Conflicting classifications of pathogenicity —
RS398123519 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS398123521 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS398123523 GABRG2 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS398123525 ALG11 Health Risk Conflicting classifications of pathogenicity ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS398123526 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease, Gaucher disease
RS398123527 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
RS398123528 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, Gaucher disease type I
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