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
RS147043673 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS147044066 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS147044263 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1470449160 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS147046215 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS147046379 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS1470463921 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS147046509 PSAP Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency
RS147046973 CPA6 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS1470472158 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS147047438 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS147047715 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1470483579 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS147049084 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS1470494014 GRID2 Health Risk Likely pathogenic —
RS147050513 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYOM1-related disorder
RS1470508986 CDH23 Health Risk Pathogenic —
RS147051158 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases
RS1470512931 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1470514558 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1470516350 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS147051782 COG8 Health Risk Likely pathogenic —
RS147051900 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS147051973 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1470520864 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1470521850 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS1470522588 OCA2 Health Risk Pathogenic —
RS1470523018 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS147052564 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1470527861 EYS Health Risk Pathogenic —
RS147052890 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Ehlers-Danlos syndrome
RS147053126 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, HPS5-related disorder
RS147054690 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS147055570 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1470556890 BRAT1 Health Risk Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1470562535 GCK Health Risk Pathogenic —
RS1470562852 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS147056383 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS147056835 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1470569820 ABCG5 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS147057169 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS147057295 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS147057701 SFTPB Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS147058179 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS147058423 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS147058538 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Inborn genetic diseases
RS1470593799 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS1470594332 POMC Health Risk Pathogenic —
RS147059670 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, SPTB-related disorder
RS1470602732 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS1470605735 RDH11 Health Risk Likely pathogenic Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
RS1470608087 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1470608351 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1470609623 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS147061364 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS147061424 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS147062651 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1470627424 COL9A3 Health Risk Pathogenic Stickler syndrome, type 6
RS147062907 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1470636347 ALG8 Health Risk Likely pathogenic ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS1470645150 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS147066473 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS147066967 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Inborn genetic diseases
RS147067171 PTCH1 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Rieger anomaly
RS1470672632 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS147067921 CPA6 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS1470681435 WDR81 Health Risk Pathogenic —
RS147068787 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS147068827 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
RS1470688849 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1470699812 FLNB Health Risk Likely pathogenic Patellar hypoplasia, Knee dislocation
RS147070169 NALCN Health Risk Conflicting classifications of pathogenicity Congenital contractures of the limbs and face, hypotonia
RS147070381 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS147070618 ABHD12 Health Risk Conflicting classifications of pathogenicity —
RS147070644 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS147070999 MAP3K7 Health Risk Conflicting classifications of pathogenicity MAP3K7-related disorder, Inborn genetic diseases
RS147071021 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS147072071 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Primary familial hypertrophic cardiomyopathy
RS147072281 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1470726150 TTN Health Risk Likely pathogenic TTN-related disorder, TTN-related disorder
RS147073518 SCN1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 1
RS1470739291 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS147074166 ABCA12 Health Risk Likely pathogenic —
RS147075283 SLC10A2 Health Risk Conflicting classifications of pathogenicity SLC10A2-related disorder, SLC10A2-related disorder
RS147075345 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNFRSF1A-related disorder
RS1470757416 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS147075806 HGF Health Risk Conflicting classifications of pathogenicity —
RS1470760407 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS147076626 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS1470769065 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS147077184 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS147077540 PSPH Health Risk Conflicting classifications of pathogenicity Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
RS147077598 DARS1 Health Risk Likely pathogenic Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS147077663 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1470780981 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS147078120 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases
RS147079519 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS1470797202 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1470797555 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1470798497 SNRNP200 Health Risk Likely pathogenic Retinitis pigmentosa 33, Retinitis pigmentosa 33
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