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
RS149644636 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS149644813 NALCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149644940 LINS1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 27
RS149644947 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS149645175 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS149645318 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149645551 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149645600 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrest, Long QT syndrome
RS149646700 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Nephrolithiasis/nephrocalcinosis
RS149646876 ADAT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149647148 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS149647577 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS149648640 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Retinal dystrophy
RS149650190 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Primary familial hypertrophic cardiomyopathy
RS149651828 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS149652400 MAST4 Health Risk Conflicting classifications of pathogenicity —
RS149652495 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS149653283 AFF2 Health Risk Conflicting classifications of pathogenicity FRAXE, Intellectual disability
RS149653966 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMB2-related disorder
RS149653983 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS149654950 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS149655074 SKIC3 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Melanoma
RS149656750 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, Jalili syndrome
RS149657255 WARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, WARS2-related disorder
RS149658268 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Inborn genetic diseases
RS149658326 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS149658988 ASAH1 Health Risk Pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
RS149659001 AQP2 Health Risk Pathogenic/Likely pathogenic Diabetes insipidus, nephrogenic
RS149659674 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS149659876 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, Inborn genetic diseases
RS149660265 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS149660690 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS149660873 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases
RS149660944 CHST8 Health Risk Conflicting classifications of pathogenicity Peeling skin syndrome type A, CHST8-related disorder
RS149663188 HESX1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS149663189 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS149663928 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS149664316 PLXNA2 Health Risk Conflicting classifications of pathogenicity PLXNA2-related disorder, PLXNA2-related disorder
RS149664909 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS149665666 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS149666093 ERCC1 Health Risk Likely pathogenic —
RS149668487 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS149668892 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS149670131 B4GALNT1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 26
RS149671582 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1-related disorder
RS149674843 MRPS22 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149675783 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS149676792 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149677540 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Colorectal cancer
RS149678400 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS149678604 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS149678681 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, SPTB-related disorder
RS149678769 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
RS149680468 FBXW7 Health Risk Likely pathogenic FBXW7-related neurodevelopmental disorder, Medulloblastoma WNT activated
RS149681175 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS149681198 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS149682171 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS149683289 PYCR1 Health Risk Conflicting classifications of pathogenicity —
RS149683345 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS149684063 CYP4V2 Health Risk Conflicting classifications of pathogenicity Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
RS149684358 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS149685136 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS149685267 CACNA1F Health Risk Conflicting classifications of pathogenicity CACNA1F-related disorder, CACNA1F-related disorder
RS149685665 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS149685738 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS149685822 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS149688478 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS149689335 HPS4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149689808 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS149690056 PIGV Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
RS149690383 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS149691476 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS149692072 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8-related disorder
RS149692177 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS149692526 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS149692552 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS149693840 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS149694033 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, VPS13A-related disorder
RS149694787 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS149695930 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group B, VACTERL association
RS149697159 COL11A2 Health Risk Pathogenic Inborn genetic diseases, COL11A2-related disorder
RS149697299 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Weill-Marchesani syndrome
RS149697952 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS149698593 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS149698681 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS149699185 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS149699277 DIP2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149699837 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS149700042 TIMM44 Health Risk Conflicting classifications of pathogenicity —
RS149700171 CFL2 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 7, Nemaline myopathy 7
RS149701114 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS149701372 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS149701627 DSP Health Risk Pathogenic Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS149701689 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly and chorioretinopathy 1
RS149703259 NEUROD1 Health Risk Pathogenic Maturity-onset diabetes of the young type 6, Maturity-onset diabetes of the young type 6
RS149703720 PCDH1 Health Risk Conflicting classifications of pathogenicity Gastric cancer, Lung cancer
RS149704197 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome type 1
RS149704276 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149704398 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS149705131 AP4B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
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