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
RS2467051596 SLC5A7 Health Risk Likely pathogenic Congenital myasthenic syndrome 20, Congenital myasthenic syndrome 20
RS2467062259 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS2467067801 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS2467079431 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS2467080147 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS2467082938 DYNC2LI1 Health Risk Likely pathogenic —
RS2467083474 DGUOK Health Risk Likely pathogenic —
RS2467087753 TTC7A Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Gastrointestinal defects and immunodeficiency syndrome 1
RS2467088466 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS2467103861 CTNNA2 Health Risk Likely pathogenic Cortical dysplasia, complex
RS2467109377 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS2467111921 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2467117257 SLC5A7 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2467118161 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467119538 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467132050 SLC5A7 Health Risk Likely pathogenic Congenital myasthenic syndrome 20, Congenital myasthenic syndrome 20
RS2467132150 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467132343 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467132951 SLC5A7 Health Risk Likely pathogenic Congenital myasthenic syndrome 20, Congenital myasthenic syndrome 20
RS2467133875 SLC5A7 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2467139048 SMPD4 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS2467143206 SMPD4 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS2467143595 SMPD4 Health Risk Likely pathogenic —
RS2467146771 SMPD4 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS2467149782 TET3 Health Risk Likely pathogenic —
RS2467150839 TET3 Health Risk Likely pathogenic —
RS2467152962 SMPD4 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS2467168010 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Hepatocellular carcinoma
RS2467168114 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2467168254 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467183138 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS2467183164 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2467183415 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2467183830 DYSF Health Risk Pathogenic/Likely pathogenic Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2467184232 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2467203971 FLNC Health Risk Pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2467204055 ANTXR1 Health Risk Likely pathogenic GAPO syndrome, GAPO syndrome
RS2467217491 LCT Health Risk Pathogenic —
RS2467218151 LCT Health Risk Pathogenic —
RS2467219547 LCT Health Risk Pathogenic —
RS2467223826 LCT Health Risk Likely pathogenic LCT-related disorder, LCT-related disorder
RS2467231974 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467238709 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467240516 LCT Health Risk Likely pathogenic LCT-related disorder, LCT-related disorder
RS2467247833 LCT Health Risk Pathogenic —
RS2467251149 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Nephronophthisis
RS2467251453 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467251559 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467251817 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Thyroid cancer
RS2467252177 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467252243 NPHP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome with renal defect, Nephronophthisis
RS2467252904 LCT Health Risk Likely pathogenic —
RS2467253753 SMPD4 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS2467258975 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome with renal defect
RS2467259314 NPHP1 Health Risk Pathogenic Nephronophthisis 1, Nephronophthisis 1
RS2467259343 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467259533 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2467259873 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467263282 CXCR4 Health Risk Likely pathogenic —
RS2467263597 TMEM127 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467263792 TMEM127 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS2467264035 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2467264298 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS2467264375 TMEM127 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467265981 TMEM127 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467266005 TMEM127 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467266041 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467266184 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2467266291 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2467266324 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2467266381 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2467266399 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467266412 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2467266445 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467266581 TMEM127 Health Risk Pathogenic —
RS2467266667 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS2467266690 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467266788 TMEM127 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467266797 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS2467272833 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2467272890 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467273765 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS2467277992 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2467281469 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2467282402 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2467282457 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2467282984 BCL11A Health Risk Pathogenic —
RS2467284869 TMEM127 Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2467284893 TMEM127 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Hereditary pheochromocytoma and paraganglioma
RS2467284973 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS2467285079 TMEM127 Health Risk Likely pathogenic Pheochromocytoma, Pheochromocytoma
RS2467285271 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS2467285427 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467285670 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2467285692 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2467285734 TMEM127 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma
RS2467285742 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2467286154 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2467301101 SMPD4 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS2467315273 SNRNP200 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
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