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
RS748523056 IFT140 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS748523193 EVC Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Ellis-van Creveld syndrome
RS748523268 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS748523504 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS748523693 HSPG2 Health Risk Pathogenic Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS748525651 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS748526375 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS748527030 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS748527429 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS748528138 SEPSECS Health Risk Pathogenic/Likely pathogenic Neurodevelopmental abnormality, Pontocerebellar hypoplasia type 2D
RS748528782 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS748529285 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS748529935 MYH11 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS748531024 CFAP410 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS748533060 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS748534360 OPHN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748534396 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS74853460 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS74853476 DBH Health Risk Pathogenic Orthostatic hypotension 1, Lymphoma
RS748535121 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS748535477 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS748536322 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS748537030 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS748537145 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748537823 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS748538823 GIGYF2 Health Risk Conflicting classifications of pathogenicity Parkinson disease 11, autosomal dominant
RS748538968 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS748539820 MARVELD2 Health Risk Pathogenic —
RS748540413 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS748540948 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS748541466 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS748541803 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS748542672 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS748545363 OTOF Health Risk Pathogenic Auditory neuropathy, Auditory neuropathy
RS748546962 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Inborn genetic diseases
RS748546983 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
RS748547209 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS748547852 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS748548960 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, POLR3A-related disorder
RS748549582 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS748550315 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS748550409 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS748550422 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS748550691 ADGRV1 Health Risk Pathogenic —
RS748550745 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS748550848 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS748551786 KIF5A Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 10
RS748551891 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS748552177 CDT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748552493 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS748553134 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS748553756 RGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS748554061 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS748554497 CANT1 Health Risk Pathogenic —
RS748554540 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS748554592 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS748555018 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS748555510 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS748555538 CUL7 Health Risk Pathogenic/Likely pathogenic 3-M syndrome, 3M syndrome 1
RS748558173 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS748559081 IQCB1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS748559430 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS748559696 CHRND Health Risk Likely pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS748561222 P3H2 Health Risk Likely pathogenic —
RS748561443 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS748561503 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS748561600 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS748563423 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS748564400 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS748567238 MYO15A Health Risk Pathogenic —
RS748567438 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS748568687 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS748568886 ALS2 Health Risk Pathogenic —
RS748569334 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS748570547 RPS6KC1 Health Risk Conflicting classifications of pathogenicity —
RS748571289 TAT Health Risk Conflicting classifications of pathogenicity Tyrosinemia type II, Tyrosinemia type II
RS748571395 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS748571616 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS74857210 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS748573472 NR3C2 Health Risk Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS748573754 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS748573794 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS748574145 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS748574432 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748574829 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, MYPN-related myopathy
RS748575266 RAD21 Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS748575829 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS748575974 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS748576209 IFT43 Health Risk Likely pathogenic —
RS748576952 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS748578019 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS748578338 CHD7 Health Risk Conflicting classifications of pathogenicity Intellectual disability, CHARGE syndrome
RS748579225 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS748579719 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS748580616 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS748581094 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS748581194 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS748581308 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS748582313 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Retinal dystrophy
RS748583298 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
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