SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886041342 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS886041343 MTM1 Health Risk Pathogenic —
RS886041344 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886041345 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS886041346 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS886041347 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS886041348 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS886041349 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886041350 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS886041351 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS886041352 AR Health Risk Pathogenic Partial androgen insensitivity syndrome, Partial androgen insensitivity syndrome
RS886041353 SERPING1 Health Risk Likely pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS886041354 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS886041355 FOXC1 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS886041356 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS886041357 PHEX Health Risk Pathogenic —
RS886041358 PHEX Health Risk Pathogenic —
RS886041359 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041360 PHEX Health Risk Pathogenic —
RS886041361 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041362 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, See cases
RS886041363 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Hypophosphatemic rickets
RS886041364 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041365 PHEX Health Risk Pathogenic See cases, See cases
RS886041366 PHEX Health Risk Pathogenic —
RS886041367 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041368 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041369 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Hypophosphatemic rickets
RS886041370 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS886041371 PHEX Health Risk Pathogenic —
RS886041372 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041373 PHEX Health Risk Pathogenic —
RS886041374 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Hypophosphatemic rickets
RS886041375 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041376 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS886041377 RNASEH2B Health Risk Pathogenic —
RS886041378 SOX2 Health Risk Pathogenic —
RS886041379 WAS Health Risk Pathogenic/Likely pathogenic Wiskott-Aldrich syndrome, Thrombocytopenia 1
RS886041380 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS886041381 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS886041382 WDR45 Health Risk Pathogenic Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
RS886041383 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS886041384 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS886041386 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A
RS886041387 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS886041389 FUS Health Risk Pathogenic —
RS886041390 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS886041391 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS886041392 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS886041394 ALOX12B Health Risk Pathogenic —
RS886041395 PRDM16 Health Risk Pathogenic Left ventricular noncompaction 8, Left ventricular noncompaction cardiomyopathy
RS886041396 ATP1A3 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Inborn genetic diseases
RS886041397 SLC20A2 Health Risk Pathogenic —
RS886041398 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS886041399 HBA2 Health Risk Pathogenic alpha Thalassemia, Erythrocytosis
RS886041400 RASA1 Health Risk Pathogenic RASA1-related disorder, Capillary malformation-arteriovenous malformation syndrome
RS886041401 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS886041402 CARD14 Health Risk Pathogenic Pityriasis rubra pilaris, Psoriasis 2
RS886041404 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS886041405 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS886041406 KMT2D Health Risk Pathogenic —
RS886041408 KMT2D Health Risk Pathogenic —
RS886041410 CRYBB2 Health Risk Pathogenic Developmental cataract, Cataract 3 multiple types
RS886041411 NFKBIA Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS886041412 EPHA2 Health Risk Pathogenic Cataract 6 multiple types, Inborn genetic diseases
RS886041414 RIT1 Health Risk Likely pathogenic Noonan syndrome 8, Noonan syndrome and Noonan-related syndrome
RS886041415 KRIT1 Health Risk Pathogenic —
RS886041416 KMT2D Health Risk Pathogenic —
RS886041417 COL7A1 Health Risk Pathogenic —
RS886041420 LHX4 Health Risk Pathogenic —
RS886041421 IFT122 Health Risk Pathogenic —
RS886041422 NFIX Health Risk Pathogenic/Likely pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS886041426 COL1A2 Health Risk Pathogenic —
RS886041427 NEXMIF Health Risk Pathogenic —
RS886041428 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS886041429 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS886041430 SHANK3 Health Risk Pathogenic —
RS886041431 ATP1A3 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS886041432 NFIX Health Risk Pathogenic —
RS886041433 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS886041434 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886041435 NF1 Health Risk Pathogenic —
RS886041436 CENPF Health Risk Pathogenic Stromme syndrome, Stromme syndrome
RS886041437 COL18A1 Health Risk Pathogenic Knobloch syndrome 1, Knobloch syndrome 1
RS886041438 OPA1 Health Risk Pathogenic —
RS886041439 COL6A2 Health Risk Pathogenic —
RS886041440 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886041441 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886041442 SCN1A Health Risk Pathogenic —
RS886041443 RET Health Risk Pathogenic —
RS886041444 CTNNB1 Health Risk Pathogenic —
RS886041445 RPL15 Health Risk Pathogenic —
RS886041446 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041447 COL6A2 Health Risk Pathogenic —
RS886041448 MED13L Health Risk Pathogenic Intellectual disability, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS886041449 ADNP Health Risk Pathogenic —
RS886041450 EHMT1 Health Risk Pathogenic —
RS886041451 UBE3A Health Risk Pathogenic —
RS886041452 KDM6A Health Risk Pathogenic —
RS886041453 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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