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
RS2477362782 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477363140 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477363254 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477363563 SDHA Health Risk Likely pathogenic Dilated cardiomyopathy 1GG, Dilated cardiomyopathy 1GG
RS2477364213 SDHA Health Risk Likely pathogenic Dilated cardiomyopathy 1GG, Dilated cardiomyopathy 1GG
RS2477364281 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome
RS2477364861 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477365022 SDHA Health Risk Likely pathogenic Dilated cardiomyopathy 1GG, Dilated cardiomyopathy 1GG
RS2477365465 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS2477369177 IRX4 Health Risk Pathogenic Ventricular septal defect 1, Ventricular septal defect 1
RS2477374565 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477374740 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477375709 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477375957 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477376026 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477376256 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5
RS2477376548 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477376643 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477382277 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS2477383479 CTNND2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2477396580 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
RS2477396615 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS2477397322 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477397838 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5
RS2477397873 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477398047 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477398507 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477398815 NSUN2 Health Risk Pathogenic —
RS2477402345 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2477404278 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477404743 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477405583 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477405647 F11 Health Risk Pathogenic —
RS2477406435 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477413153 NSUN2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 5
RS2477415302 NSUN2 Health Risk Pathogenic —
RS2477415556 NSUN2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2477416919 F11 Health Risk Pathogenic —
RS2477420066 ANKH Health Risk Likely pathogenic Craniometaphyseal dysplasia, autosomal dominant
RS2477435655 F11 Health Risk Likely pathogenic F11-related disorder, F11-related disorder
RS2477448259 NSUN2 Health Risk Likely pathogenic —
RS2477448485 NSUN2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 5
RS2477449564 F11 Health Risk Pathogenic —
RS2477454190 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477454681 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477454907 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477454917 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477455174 SDHA Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2477457298 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5
RS2477457537 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477457583 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome
RS2477457936 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477458208 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS2477459237 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477467353 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2477468201 NSUN2 Health Risk Pathogenic —
RS2477476240 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2477476665 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477476930 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477477068 TRIO Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2477480200 TRIO Health Risk Pathogenic —
RS2477489047 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2477489407 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477507339 NSUN2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2477508063 NSUN2 Health Risk Pathogenic Intellectual disability, autosomal recessive 5
RS2477531450 SLC9A3 Health Risk Pathogenic —
RS2477547119 PRDM5 Health Risk Pathogenic/Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS2477550717 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2477573063 FAT1 Health Risk Pathogenic —
RS2477588348 SLC9A3 Health Risk Pathogenic —
RS2477588920 SLC9A3 Health Risk Likely pathogenic —
RS2477597008 SLC9A3 Health Risk Likely pathogenic —
RS2477623961 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2477626590 CANT1 Health Risk Pathogenic —
RS2477666289 UFSP2 Health Risk Likely pathogenic Developmental dysplasia of the hip, Developmental dysplasia of the hip
RS2477698311 RETREG1 Health Risk Pathogenic —
RS2477712772 RETREG1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2477712778 RETREG1 Health Risk Likely pathogenic —
RS2477751846 LARP7 Health Risk Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS2477751871 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS2477768708 LARP7 Health Risk Pathogenic —
RS2477776526 LARP7 Health Risk Pathogenic —
RS2477786255 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS2477789703 LARP7 Health Risk Pathogenic —
RS2477797618 LARP7 Health Risk Pathogenic —
RS2477799301 LARP7 Health Risk Pathogenic/Likely pathogenic LARP7-related disorder, LARP7-related disorder
RS2477809311 RETREG1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2477809965 RETREG1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2477826472 PRDM5 Health Risk Pathogenic —
RS2477840776 HPGD Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS2477893988 TBCK Health Risk Pathogenic —
RS2477896212 HPGD Health Risk Pathogenic —
RS2477903099 LARP7 Health Risk Pathogenic —
RS2477917148 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2477919768 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2477925829 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2477931037 MYO10 Health Risk Likely pathogenic —
RS2477932831 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2477935977 NIPBL Health Risk Likely pathogenic NIPBL-related disorder, NIPBL-related disorder
RS2477936695 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
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