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
RS905983196 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS905985075 CASQ2 Health Risk Likely pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2
RS905986782 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS905999861 GABRA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS906014476 BAG5 Health Risk Pathogenic Cardiomyopathy, dilated
RS906032090 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS906038468 MYL4 Health Risk Likely pathogenic Atrial fibrillation, familial
RS906049409 GLDC Health Risk Likely pathogenic —
RS906050638 KIFBP Health Risk Conflicting classifications of pathogenicity Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS906055922 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS906075234 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS906086634 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS906116592 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS906125295 SOCS1 Health Risk Pathogenic Malignant lymphoma, large B-cell
RS906176970 GDF5 Health Risk Likely pathogenic —
RS906180828 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS906191341 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS906201774 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS906208330 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS906225803 COL18A1 Health Risk Pathogenic —
RS906245021 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS906284769 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS906327946 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS906331617 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation
RS906340789 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS906381816 RNU12 Health Risk Pathogenic Craniosynostosis-anal anomalies-porokeratosis syndrome, Craniosynostosis-anal anomalies-porokeratosis syndrome
RS906395966 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS906452681 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 4
RS906490703 RHAG Health Risk Conflicting classifications of pathogenicity —
RS906494713 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS906525288 C1QTNF5 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS906553840 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS906562788 KCNH2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 1, Long QT syndrome 2
RS906563423 PMP22 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS906564011 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS906583553 COL7A1 Health Risk Pathogenic —
RS906719754 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS906740657 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS906755254 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS906758153 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS906768870 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS906771712 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS906852829 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Nephronophthisis 18
RS906880093 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, ELP1-Associated Medulloblastoma
RS906888001 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS906902 - Health Risk association Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
RS906913822 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS906914158 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS906925939 CYP1B1 Health Risk Likely pathogenic Glaucoma 3A, Glaucoma 3A
RS906992891 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS907003380 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS907021617 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS907041830 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS907046324 LIFR Health Risk Pathogenic —
RS907106559 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS907135467 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS907161461 BEST1 Health Risk Pathogenic —
RS907173644 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS907174700 ADGRL1 Health Risk Pathogenic Global developmental delay, Specific learning disability
RS907198537 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS907217983 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS907237595 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS907252547 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS907320913 NOTCH3 Health Risk Pathogenic —
RS907366824 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS907370883 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS907414760 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS907417199 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS907422214 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases
RS907427275 PQBP1 Health Risk Conflicting classifications of pathogenicity Mild intellectual disability, Inborn genetic diseases
RS907429190 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS907569728 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS907592735 TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS907669138 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS907669905 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS907710981 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS907712162 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS907713687 COL18A1 Health Risk Likely pathogenic —
RS907728820 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS907760287 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS907788066 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Inborn genetic diseases
RS907814338 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS907814598 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS907852687 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS907856232 RPGR Health Risk Pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS907881705 PEPD Health Risk Pathogenic/Likely pathogenic Prolidase deficiency, Prolidase deficiency
RS907886109 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS907944585 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS907960826 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS907962079 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS908149058 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS908149134 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS908180041 SLC25A46 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS908189174 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS908210610 NOS1AP Health Risk Pathogenic Nephrotic syndrome, type 22
RS908238464 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS908256532 ABCA1 Health Risk Pathogenic ABCA1-related dyslipidemia, ABCA1-related dyslipidemia
RS908265742 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS908276068 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS908321623 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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