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
RS961586768 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS961593162 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS961624298 PHIP Health Risk Pathogenic —
RS961633772 MSH5 Health Risk Pathogenic Non-obstructive azoospermia, Spermatogenic failure 74
RS961639912 SLC5A7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 20, Neuronopathy
RS961681338 GHR Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS961707608 TRPV4 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS961762320 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS961801948 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS961829342 GJB1 Health Risk Conflicting classifications of pathogenicity GJB1-related disorder, GJB1-related disorder
RS961833483 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS961865375 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Rare genetic deafness
RS961867431 EYS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS961876891 COA7 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS961911715 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 1
RS961913683 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS961918637 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS961974192 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS961988900 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS961990525 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS962041031 GJA1 Health Risk Pathogenic/Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
RS962057732 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS962068207 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS962070481 COL13A1 Health Risk Likely pathogenic —
RS962071242 DLL3 Health Risk Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS962077113 TG Health Risk Pathogenic —
RS962082210 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrullinemia
RS962092255 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS962096142 NDUFS7 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 3
RS962100875 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS962124239 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS962135951 MLYCD Health Risk Pathogenic —
RS962170388 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS962224649 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS962246149 TRIOBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS962247688 MFAP5 Health Risk Conflicting classifications of pathogenicity —
RS962264300 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS962267153 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS962273857 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS962321651 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS962331806 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS962354900 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS962387857 DCDC2 Health Risk Likely pathogenic DCDC2-related disorder, DCDC2-related disorder
RS962405110 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS962420824 PDE6C Health Risk Pathogenic —
RS962460972 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS962469283 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS962476553 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS962478091 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS962489830 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS962496239 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS962499498 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS962500324 TBCK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypotonia
RS962504241 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS962509441 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS962522673 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS962523270 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS962540601 LCT Health Risk Pathogenic/Likely pathogenic —
RS962542157 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS962560401 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS962689701 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS962701773 EIF2B5 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS962805778 DNMT3A Health Risk Likely pathogenic See cases, Hypoparathyroidism
RS962808170 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS962808354 PER2 Health Risk Conflicting classifications of pathogenicity Advanced sleep phase syndrome 1, Advanced sleep phase syndrome 1
RS9628306 TUBGCP6 Health Risk Conflicting classifications of pathogenicity TUBGCP6-related disorder, TUBGCP6-related disorder
RS962841876 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS962844498 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Retinal dystrophy
RS962863191 ETV6 Health Risk Pathogenic ETV6-related disorder, Thrombocytopenia 5
RS962867098 PCSK1 Health Risk Likely pathogenic —
RS962867926 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS962885211 PAK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 30
RS962932495 MBD4 Health Risk Pathogenic —
RS963023006 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS963039919 FKRP Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS963048075 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS963136799 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS963142616 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS963144528 ATP2C1 Health Risk Likely pathogenic —
RS963172852 PMPCA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS963201816 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS963202921 LOXHD1 Health Risk Pathogenic —
RS963234468 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS963277918 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Cardiovascular phenotype
RS963297092 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS963302668 FAT4 Health Risk Pathogenic Van Maldergem syndrome 2, Van Maldergem syndrome 2
RS963330003 KCTD1 Health Risk Conflicting classifications of pathogenicity Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
RS963339667 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS963364351 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS963404377 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS963416165 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS963430078 F7 Health Risk Likely pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS963488715 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS963520367 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS963544121 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS963553787 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS963564435 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS963564866 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS963581326 ANKRD17 Health Risk Conflicting classifications of pathogenicity Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS963604980 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy
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