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
RS1262983210 HPS5 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1263006158 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1263013448 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1263020044 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1263036686 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1263059454 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS1263067327 USP53 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1263068319 MYO15A Health Risk Likely pathogenic —
RS1263082097 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1263091149 CACNA1A Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS1263094349 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1263096303 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS12631031 PARL Health Risk Uncertain risk allele Leprosy, susceptibility to
RS1263108967 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1263141648 TMC1 Health Risk Pathogenic/Likely pathogenic —
RS1263185890 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1263195991 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS1263198421 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1263237391 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Central core myopathy
RS1263244811 SLC12A3 Health Risk Conflicting classifications of pathogenicity SLC12A3-related disorder, Hypokalemia
RS1263248887 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1263250868 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1263259211 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1263265387 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1263279945 BICD2 Health Risk Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS1263286428 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1263298339 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1263302192 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1263307538 NRXN1 Health Risk Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1263308663 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1263347824 SLC46A1 Health Risk Pathogenic —
RS1263369560 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1263371770 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, Hereditary angioedema type 1
RS1263409404 FANCE Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1263426144 F7 Health Risk Pathogenic Factor VII deficiency, Factor VII deficiency
RS1263464680 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1263468898 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS1263473412 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1263484305 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1263493813 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1263496800 MYBPC3 Health Risk Likely pathogenic —
RS1263501260 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1263517814 PIGS Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
RS1263533157 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS1263540507 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS1263546070 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1263566071 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1263583359 KCNQ1 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 2, Cardiac arrhythmia
RS1263604546 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1263611523 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS1263616535 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1263628434 DICER1 Health Risk Pathogenic —
RS1263658448 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS1263679818 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1263683170 GNAO1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1263684271 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1263687624 ELOVL4 Health Risk Pathogenic —
RS1263698980 LPL Health Risk Pathogenic —
RS1263708289 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1263745475 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1263748674 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1263776141 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1263776472 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1263780227 NOTCH3 Health Risk Likely pathogenic Lateral meningocele syndrome, Sneddon syndrome
RS1263815921 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1263863618 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1263866285 OTOG Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1263904781 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1263911484 CEP152 Health Risk Pathogenic/Likely pathogenic Microcephaly 9, primary
RS1263918453 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1263918669 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS1263919141 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 3
RS1263936807 PKD1 Health Risk Likely pathogenic —
RS1263954282 IMPG2 Health Risk Pathogenic —
RS1263967109 COL4A2 Health Risk Pathogenic —
RS1263969213 HBA2 Health Risk Pathogenic/Likely pathogenic alpha Thalassemia, Hemoglobin H disease
RS1263987728 MYH6 Health Risk Pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1264013707 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1264025914 CRYBA1 Health Risk Pathogenic Cataract 10 multiple types, Inborn genetic diseases
RS1264032724 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Episodic ataxia type 1
RS1264036094 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1264059615 MESP2 Health Risk Pathogenic —
RS1264060719 ZNF711 Health Risk Likely pathogenic Intellectual disability, X-linked 97
RS1264073726 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS1264151343 SLC38A8 Health Risk Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS1264168702 DLL3 Health Risk Pathogenic —
RS1264171984 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1264172545 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1264176877 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1264202646 CACNA1G Health Risk Likely pathogenic —
RS1264207864 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1264208772 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS1264217866 SLC26A3 Health Risk Pathogenic SLC26A3-related disorder, Congenital secretory diarrhea
RS1264222654 MBOAT7 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 57
RS1264242478 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1264247948 SLC38A8 Health Risk Likely pathogenic —
RS1264268274 RACGAP1 Health Risk Pathogenic Anemia, congenital dyserythropoietic
RS1264269542 ADGRV1 Health Risk Pathogenic —
RS1264293762 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1264298481 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
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