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
RS775092314 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS775093336 CDH23 Health Risk Pathogenic —
RS775093878 HAND1 Health Risk Conflicting classifications of pathogenicity Hypoplastic left heart syndrome, Hypoplastic left heart syndrome
RS775094277 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS775094328 INPP5E Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS775095314 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS775095594 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hemolytic anemia
RS775095655 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Infantile cortical hyperostosis
RS775097525 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS775097754 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS775097957 KCNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775098819 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Autosomal dominant spastic paraplegia type 9
RS775098953 CLRN1;CLRN1-AS1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 61, Usher syndrome type 3A
RS775099024 NAGA Health Risk Pathogenic/Likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
RS775099224 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS775100769 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS775101470 PHOX2B Health Risk Pathogenic/Likely pathogenic Haddad syndrome, Hereditary cancer-predisposing syndrome
RS775102121 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS775102627 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS775102947 CYP11A1 Health Risk Pathogenic/Likely pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS775103017 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS775103922 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS775103982 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS775104326 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Inborn genetic diseases
RS775104626 covers 22 genes, none of which curated to show dosage sensitivity Health Risk Likely pathogenic Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
RS775105018 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS775105637 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS775107475 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775107483 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS775109231 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS775109362 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS775111365 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS775112137 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, ATM-related cancer predisposition
RS775112258 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS775112689 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS775113388 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS775113694 CNNM2 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS775113815 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS775114398 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 7
RS775114955 RET Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, Multiple endocrine neoplasia
RS775115309 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS775115784 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS775116734 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS775118818 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT2B-related disorder
RS775119313 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS775121719 BLK Health Risk Conflicting classifications of pathogenicity —
RS775124094 KIZ Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS775125740 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775126020 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS775126492 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS775126785 MYO18B Health Risk Pathogenic/Likely pathogenic MYO18B-related disorder, MYO18B-related disorder
RS775127232 MTRFR Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 7, Spastic paraplegia
RS775127288 ABCA12 Health Risk Pathogenic —
RS775127532 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS775127703 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS775128044 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS775128501 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS775129242 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS775130557 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS775130589 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS775130663 MYH14 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS775131364 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS775132310 ADCY5 Health Risk Pathogenic —
RS775134377 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS775134825 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS775136193 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS775136381 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS775136514 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS775136764 RSPH9 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775136925 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS775137607 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS775138431 FERMT3 Health Risk Pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS775138686 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS775139340 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS775140242 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS775140280 POLE Health Risk Pathogenic —
RS775141057 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Leukodystrophy
RS775141512 HPS5 Health Risk Likely pathogenic —
RS775141616 FILIP1 Health Risk Pathogenic Neuromuscular disorder, congenital
RS775142613 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS775142959 GPSM2 Health Risk Conflicting classifications of pathogenicity GPSM2-related disorder, GPSM2-related disorder
RS775143272 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS775143472 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS775146212 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775149348 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS775149898 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS775151738 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS775151826 SLC35A3 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Inborn genetic diseases
RS775152474 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS775152764 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS775153934 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 5
RS775153939 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS775154397 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS775155214 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS775155970 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS775156125 MCM8 Health Risk Likely pathogenic Premature ovarian failure 10, Premature ovarian failure 10
RS775156902 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS775156958 PADI6 Health Risk Pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS775157123 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS775157727 CYP2U1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 56, Spastic paraplegia
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