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
RS1038705410 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1038727557 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1038728566 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS1038735071 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1038735802 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS1038744864 HSD17B4 Health Risk Pathogenic Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
RS1038769707 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1038776365 SETX Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1038796042 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus
RS1038816435 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1038817783 DEAF1 Health Risk Conflicting classifications of pathogenicity —
RS1038898344 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1038920023 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1038941016 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1038946311 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1038956173 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1038984851 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS1039014549 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1039017551 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1039053911 MAK Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1039146791 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 1, Nephronophthisis
RS1039151413 WWOX Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 1
RS1039165645 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1039184417 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1039220588 ZMIZ1 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS1039221071 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1039236504 TPP2 Health Risk Pathogenic Immunodeficiency 78 with autoimmunity and developmental delay, Immunodeficiency 78 with autoimmunity and developmental delay
RS1039246955 KIAA0586 Health Risk Pathogenic —
RS1039258079 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1039272492 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS1039298862 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1039304689 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1039353637 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1039396284 TUBGCP6 Health Risk Pathogenic —
RS1039454314 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2
RS1039467525 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS1039479235 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, HNF1A-related disorder
RS1039490629 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1039515359 FGF3 Health Risk Conflicting classifications of pathogenicity Deafness with labyrinthine aplasia, microtia
RS1039517349 CDH23 Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1039568775 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS1039571136 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1039633976 DSG2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS1039652182 TULP1 Health Risk Pathogenic —
RS1039706882 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1039759571 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1039760932 C8A Health Risk Conflicting classifications of pathogenicity —
RS1039778197 SLC39A14 Health Risk Likely pathogenic Hypermanganesemia with dystonia 2, Hyperostosis cranialis interna
RS1039799564 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1039799815 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS1039808574 ATP6V0A2 Health Risk Likely pathogenic ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy
RS1039821634 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1039843487 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1039889497 CAMK2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 54
RS1039909828 NR2E3 Health Risk Likely pathogenic —
RS1039952708 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS1039985533 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1039999157 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1040041070 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1040063411 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS1040081238 COL9A2 Health Risk Pathogenic/Likely pathogenic Epiphyseal dysplasia, multiple
RS1040089025 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Hirsutism, Motor delay
RS1040120840 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1040121123 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1040144478 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS1040168773 COL11A1 Health Risk Conflicting classifications of pathogenicity Marshall syndrome, Stickler syndrome type 2
RS1040173915 CEP152 Health Risk Likely pathogenic —
RS1040183266 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1040204302 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1040238147 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1040245889 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1040248294 GSR Health Risk Likely pathogenic Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
RS1040279711 RAPSN Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1040280976 CEP78 Health Risk Conflicting classifications of pathogenicity —
RS1040287646 COL4A4 Health Risk Pathogenic Alport syndrome, Autosomal recessive Alport syndrome
RS1040336692 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1040353645 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1040362862 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1040386724 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Diabetic retinopathy
RS1040401556 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS1040410003 TUB Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, TUB-related disorder
RS1040415272 TULP1 Health Risk Conflicting classifications of pathogenicity —
RS1040427770 DCHS1 Health Risk Pathogenic —
RS1040429279 ITGAM Health Risk Conflicting classifications of pathogenicity —
RS1040441824 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1040451138 CEP152 Health Risk Pathogenic —
RS1040467710 GPX4 Health Risk Pathogenic —
RS1040470628 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS1040480735 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1040514625 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1040524947 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1040540690 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS1040565692 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1040594389 ENG Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1040633055 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1040633382 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS1040639267 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1040654062 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS1040675580 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1040702840 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy
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