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
RS864309489 RIPPLY2 Health Risk Likely pathogenic Klippel-Feil syndrome 2, autosomal recessive
RS864309490 ACTG2 Health Risk Pathogenic Visceral myopathy 1, Visceral myopathy 1
RS864309491 ACTG2 Health Risk Pathogenic Visceral myopathy 1, Visceral myopathy 1
RS864309492 ACTG2 Health Risk Likely pathogenic Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
RS864309495 TP53 Health Risk Pathogenic Mediastinal germ cell tumor, Acute megakaryoblastic leukemia
RS864309499 ACO2 Health Risk Conflicting classifications of pathogenicity Infantile cerebellar-retinal degeneration, Optic atrophy 9
RS864309500 SURF1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4K, Leigh syndrome
RS864309501 VCP Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2Y, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS864309502 VCP Health Risk Pathogenic Charcot-Marie-Tooth disease type 2Y, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS864309503 MORC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
RS864309504 MORC2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease
RS864309505 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS864309506 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS864309508 UBE3A Health Risk Pathogenic Angelman syndrome, Inborn genetic diseases
RS864309509 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS864309510 MMAB Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
RS864309511 MMAB Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
RS864309512 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS864309513 NEU1 Health Risk Pathogenic Non-immune hydrops fetalis, Sialidosis type 2
RS864309514 SLC2A1 Health Risk Pathogenic Hereditary cryohydrocytosis with reduced stomatin, Hereditary cryohydrocytosis with reduced stomatin
RS864309515 ADCY5 Health Risk Pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS864309516 CLDN1 Health Risk Pathogenic Neonatal ichthyosis-sclerosing cholangitis syndrome, Neonatal ichthyosis-sclerosing cholangitis syndrome
RS864309517 CLDN1 Health Risk Pathogenic Neonatal ichthyosis-sclerosing cholangitis syndrome, Neonatal ichthyosis-sclerosing cholangitis syndrome
RS864309519 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS864309520 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS864309521 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
RS864309522 SLC2A1 Health Risk Pathogenic/Likely pathogenic Hereditary cryohydrocytosis with reduced stomatin, Inborn genetic diseases
RS864309523 COL11A2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 53, Autosomal recessive nonsyndromic hearing loss 53
RS864309524 HOMER2 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 68, Autosomal dominant nonsyndromic hearing loss 68
RS864309525 LMNA Health Risk Pathogenic Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2
RS864309526 FBLN5 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, demyelinating
RS864309527 RAB39B Health Risk Pathogenic Parkinson disease, X-linked dominant
RS864309530 LYST Health Risk Likely pathogenic Recurrent infections, Chédiak-Higashi syndrome
RS864309531 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS864309532 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS864309533 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS864309543 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS864309545 CHD2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS864309547 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS864309548 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS864309551 FUCA1 Health Risk Pathogenic/Likely pathogenic FUCA1-related disorder, Fucosidosis
RS864309552 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS864309559 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hypothermia, RYR1-related disorder
RS864309560 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS864309562 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS864309569 KMT2A Health Risk Pathogenic —
RS864309570 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS864309572 ATP1A3 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12
RS864309577 CTNNB1 Health Risk Pathogenic —
RS864309599 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome
RS864309602 HACD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS864309606 CAMK2A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 53
RS864309607 MYO15A Health Risk Pathogenic —
RS864309608 ATP8A2 Health Risk Conflicting classifications of pathogenicity —
RS864309609 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS864309615 ARID1B Health Risk Likely pathogenic —
RS864309616 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS864309634 PLEC Health Risk Pathogenic —
RS864309635 PLEC Health Risk Pathogenic —
RS864309636 EXT2 Health Risk Pathogenic Exostoses, multiple
RS864309637 EXT2 Health Risk Pathogenic Exostoses, multiple
RS864309638 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS864309639 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS864309642 LARS2 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 4, Perrault syndrome 4
RS864309643 LARS2 Health Risk Pathogenic Perrault syndrome 4, Perrault syndrome 4
RS864309644 GJA1 Health Risk Pathogenic Autosomal dominant palmoplantar keratoderma and congenital alopecia, Autosomal dominant palmoplantar keratoderma and congenital alopecia
RS864309645 SOHLH1 Health Risk Likely pathogenic Nonsyndromic hypergonadotropic hypogonadism, Ovarian dysgenesis 5
RS864309646 SOHLH1 Health Risk Pathogenic/Likely pathogenic Nonsyndromic hypergonadotropic hypogonadism, Ovarian dysgenesis 5
RS864309647 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS864309649 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS864309650 CHCHD2 Health Risk Pathogenic Parkinson disease 22, autosomal dominant
RS864309651 RSPRY1 Health Risk Pathogenic Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome, Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
RS864309652 RSPRY1 Health Risk Pathogenic Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome, Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
RS864309656 ECHS1 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS864309659 SLC39A8 Health Risk Likely pathogenic SLC39A8-CDG, SLC39A8-CDG
RS864309661 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, X-linked cerebral-cerebellar-coloboma syndrome syndrome
RS864309662 COL13A1 Health Risk Pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS864309663 COL13A1 Health Risk Pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS864309664 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS864309665 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS864309666 SCYL1 Health Risk Likely pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS864309667 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS864309668 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS864309669 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS864309670 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS864309671 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS864309672 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS864309673 PLEC Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Abnormality of the musculature
RS864309674 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS864309675 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS864309676 STX7 Health Risk Likely pathogenic Abnormality of neuronal migration, Abnormality of neuronal migration
RS864309678 MAF Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS864309679 NHS Health Risk Pathogenic Developmental cataract, Developmental cataract
RS864309680 BCOR Health Risk Pathogenic Developmental cataract, Developmental cataract
RS864309681 PAX6 Health Risk Pathogenic Developmental cataract, Aniridia 1
RS864309682 CRYBB1 Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS864309683 CRYBB2 Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS864309684 GJA8 Health Risk Likely pathogenic Developmental cataract, Cataract 1 multiple types
RS864309685 CRYAA Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS864309686 PAX6 Health Risk Likely pathogenic Developmental cataract, Developmental cataract
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