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
RS759037498 ASAH1 Health Risk Pathogenic —
RS759037691 TIAM1 Health Risk Pathogenic Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures
RS759038879 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS759039589 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS759039839 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS759040714 IRF7 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 39, Immunodeficiency 39
RS759041100 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS759041924 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS759043037 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS759043669 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS759043857 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS759043861 MLYCD Health Risk Pathogenic/Likely pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS759043889 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS759045497 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759045547 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Erythrocytosis
RS759045816 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS759047530 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS759048090 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS759048290 MESD Health Risk Pathogenic Osteogenesis imperfecta, type 20
RS759048462 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS759048538 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759048539 KIF1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic ataxia 2
RS759050295 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, Inborn genetic diseases
RS759050645 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS759051688 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS759052298 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS759052378 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS759052984 DNHD1 Health Risk Conflicting classifications of pathogenicity Male infertility with spermatogenesis disorder, DNHD1-related disorder
RS759055212 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS759055397 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS759055581 TET2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 75, Immunodeficiency 75
RS759056190 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS759056367 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759057396 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS759057929 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS759058288 SART3 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental defects and Developmental delay with 46
RS759059084 CNTNAP1 Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 7, Neuropathy
RS759059925 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759060233 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS759061923 HIKESHI Health Risk Likely pathogenic Hypomyelinating leukodystrophy 13, Hypomyelinating leukodystrophy 13
RS759061964 MAP2K2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis-Noonan syndrome, RASopathy
RS759063638 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS759063883 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS759064297 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS759064817 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS759065536 NEU1 Health Risk Conflicting classifications of pathogenicity Sialidosis type 2, Sialidosis type 2
RS759065663 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS759065714 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS759066438 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS759068118 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS759068540 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS759068561 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS759068569 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS759069096 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS759069299 AARS2 Health Risk Likely pathogenic Leukoencephalopathy, progressive
RS759071081 NR5A1 Health Risk Pathogenic/Likely pathogenic Non-obstructive azoospermia, Male infertility
RS759071569 TBC1D32 Health Risk Pathogenic —
RS759071794 IRF2BPL Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS759072209 MME Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Ovarian serous cystadenocarcinoma
RS759072451 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS759072800 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS759073156 DNAH10 Health Risk Likely pathogenic Spermatogenic failure 56, Spermatogenic failure 56
RS75907338 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS759074048 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS759074487 TK2 Health Risk Likely pathogenic —
RS759074708 CLCN2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy
RS759074976 C8B Health Risk Pathogenic Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS759075251 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS759075520 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS759075595 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS759075971 FGD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Aarskog syndrome
RS759076157 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS759076549 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS759076608 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS759078497 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS759079269 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS759079385 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS759079847 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, SPINK5-related disorder
RS759080195 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS759080581 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS759080989 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS759081217 TPM1 Health Risk Conflicting classifications of pathogenicity —
RS759081373 KCNH2 Health Risk Pathogenic —
RS759081607 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759081971 FERMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759082809 PAX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759083379 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS759083770 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS759084238 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS759084687 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS759085500 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia, Malignant hyperthermia
RS759085594 CPXCR1 Health Risk Conflicting classifications of pathogenicity —
RS759086398 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS759086485 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS759086770 TTC21B Health Risk Pathogenic/Likely pathogenic Type IV short rib polydactyly syndrome, Asphyxiating thoracic dystrophy 4
RS759088490 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 12, Retinal dystrophy
RS759089960 YY1AP1 Health Risk Likely pathogenic Grange syndrome, Grange syndrome
RS759090170 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS759090799 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS759091617 POU4F3 Health Risk Likely pathogenic —
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