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
RS1487859107 MMUT Health Risk Pathogenic —
RS148786103 RAB18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148786642 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions
RS1487870537 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS148787300 MCF2L Health Risk Conflicting classifications of pathogenicity —
RS1487874168 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS148788346 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy
RS148788926 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS148789453 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS148789800 ELMOD3 Health Risk Conflicting classifications of pathogenicity —
RS148790132 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS148790247 SEMA3C Health Risk Conflicting classifications of pathogenicity SEMA3C-related disorder, SEMA3C-related disorder
RS1487902875 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1487909793 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS148791107 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS148791216 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS1487912297 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS148791570 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Fanconi anemia complementation group Q
RS148791608 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS148791938 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS148792791 ABCB4 Health Risk Pathogenic Familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS148792902 EBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, EBP-related disorder
RS1487930609 ETHE1 Health Risk Pathogenic/Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS148793803 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, SH3TC2-related disorder
RS148793863 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS148793995 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS1487941652 F8 Health Risk Likely pathogenic —
RS148794372 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS148794835 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS148795520 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
RS1487979476 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS148797987 CD79A Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 3, autosomal recessive
RS148798048 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Aplastic anemia
RS1487984678 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS148798482 NTSR2 Health Risk Conflicting classifications of pathogenicity —
RS148799345 CACNA1B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, CACNA1B-related disorder
RS1488001302 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS148800217 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS148800393 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS148800881 ANO6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thyroid cancer
RS148801165 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148801200 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS1488017236 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148802607 TRPM1 Health Risk Conflicting classifications of pathogenicity TRPM1-related disorder, Hereditary macular dystrophy
RS148803059 ATP6AP1 Health Risk Conflicting classifications of pathogenicity ATP6AP1-related disorder, Intellectual disability
RS148804268 LGI1 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS1488052513 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS148805312 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS148805518 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS148806569 DARS1 Health Risk Conflicting classifications of pathogenicity —
RS1488066635 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1488079271 HMGCL Health Risk Conflicting classifications of pathogenicity Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS148808089 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1488084787 MCPH1 Health Risk Pathogenic Microcephaly 1, primary
RS148808516 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS148808529 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS148808609 CD19 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1488089118 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1488095558 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS148809781 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS148810173 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS148810193 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS148810231 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, LRIT3-related disorder
RS1488104140 POC1A Health Risk Pathogenic —
RS148810475 ATAD3B Health Risk Conflicting classifications of pathogenicity —
RS148810507 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS148810969 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148811525 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS148811739 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder
RS148811815 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS1488118393 ACAD9 Health Risk Pathogenic —
RS148811960 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS148812376 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS148812509 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS148812753 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS148812911 FTSJ1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS148813091 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, TYR-related disorder
RS148813922 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, DUOX2-related disorder
RS148814585 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS1488146761 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS148814769 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS148815652 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS148815814 DSTYK Health Risk Conflicting classifications of pathogenicity Congenital anomalies of kidney and urinary tract 1, DSTYK-related disorder
RS1488158197 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Noonan syndrome and Noonan-related syndrome
RS148815842 AFG2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148816140 GLIS3 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism
RS148817026 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1488175163 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS148817957 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS148818072 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148818431 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS1488184652 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS148818720 MMP20 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS148818748 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS148820351 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8-related disorder
RS148820389 OAS1 Health Risk Conflicting classifications of pathogenicity Pulmonary alveolar proteinosis with hypogammaglobulinemia, Pulmonary alveolar proteinosis with hypogammaglobulinemia
RS1488207344 PDZD7 Health Risk Pathogenic —
RS148820865 BPNT2 Health Risk Conflicting classifications of pathogenicity Chondrodysplasia with joint dislocations, gPAPP type
RS1488213352 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS1488216480 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
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