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
RS1215038260 MYH3 Health Risk Pathogenic —
RS1215043175 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1215058780 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1215104195 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1215108056 WDR19 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 5
RS1215109986 LOXHD1 Health Risk Likely pathogenic —
RS1215112070 DNAAF3 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1215113920 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1215152261 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1215157114 DACT1 Health Risk Pathogenic Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
RS1215164743 HBB Health Risk Conflicting classifications of pathogenicity —
RS1215174368 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, HNF1B-related disorder
RS1215179726 TBC1D2B Health Risk Likely pathogenic TBC1D2B-related disorder, TBC1D2B-related disorder
RS1215181446 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1215189491 MKS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS1215189537 APOB Health Risk Pathogenic/Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1215220865 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1215221860 SZT2 Health Risk Pathogenic —
RS1215223498 KASH5 Health Risk Pathogenic Premature ovarian failure 22, Spermatogenic failure 88
RS1215256187 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1215262242 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1215264639 KIF5C Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS1215272332 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1215283244 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1215290114 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1215296259 SMARCD2 Health Risk Pathogenic —
RS1215316727 SFTPA1 Health Risk Pathogenic Interstitial lung disease 1, Interstitial lung disease 1
RS1215325430 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1215326426 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1215331296 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1215335509 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1215337884 TMEM127 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1215339340 TUBB2A Health Risk Conflicting classifications of pathogenicity —
RS1215353050 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 2, Hereditary cancer-predisposing syndrome
RS1215363137 TSFM Health Risk Pathogenic —
RS1215392490 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1215395028 MYO18B Health Risk Pathogenic —
RS1215422400 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS1215425090 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS1215427707 COL17A1 Health Risk Likely pathogenic Epithelial recurrent erosion dystrophy, Epidermolysis bullosa
RS1215450178 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS1215450873 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1215459755 SOX11 Health Risk Likely pathogenic SOX11-related disorder, SOX11-related disorder
RS1215460929 DYSF Health Risk Likely pathogenic —
RS1215478084 AGBL5 Health Risk Likely pathogenic —
RS1215481060 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1215488320 DHODH Health Risk Pathogenic Miller syndrome, Miller syndrome
RS1215497457 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1215499352 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1215504032 ADCY5 Health Risk Pathogenic —
RS1215525192 EIF2B5 Health Risk Pathogenic —
RS1215540106 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS1215549413 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1215558613 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS1215562006 LARS2 Health Risk Pathogenic —
RS1215568155 NBEA Health Risk Pathogenic NBEA-related disorder, NBEA-related disorder
RS1215568879 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1215569190 F8 Health Risk Pathogenic —
RS1215576338 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS1215582852 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1215589381 AP3B2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 48
RS1215600806 ALPL Health Risk Pathogenic/Likely pathogenic Micromelia, Adult hypophosphatasia
RS1215651130 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1215657187 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1215659707 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1215667472 SLC12A3 Health Risk Pathogenic —
RS1215674180 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1215674609 CACNA1B Health Risk Pathogenic —
RS1215680080 YARS2 Health Risk Pathogenic —
RS1215699403 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1215700016 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1215724215 LHX3 Health Risk Pathogenic —
RS1215728276 LRP5 Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS1215751447 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1215759021 SCARF2 Health Risk Likely pathogenic Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS1215766333 PDE6B Health Risk Likely pathogenic —
RS1215780415 ATP6V0A4 Health Risk Pathogenic —
RS1215799527 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS1215825701 COL2A1 Health Risk Pathogenic See cases, See cases
RS1215852570 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1215854055 PCNT Health Risk Likely pathogenic —
RS1215872095 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1215872713 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS1215888256 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1215926483 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1215934207 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome, Schwartz-Jampel syndrome
RS1215940390 COL1A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Osteogenesis imperfecta type I
RS12159483 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1215949434 EPB42 Health Risk Likely pathogenic —
RS1215965232 ZFYVE19 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1215965777 NPHP3 Health Risk Pathogenic —
RS1215967523 ZNF292 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Intellectual developmental disorder
RS1216000876 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1216015544 ZNF142 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS1216016300 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy, Nemaline myopathy 2
RS1216021480 MTTP Health Risk Pathogenic —
RS1216052074 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1216061173 ERF Health Risk Likely pathogenic Chitayat syndrome, Lambdoidal craniosynostosis
RS1216088309 SYNE4 Health Risk Pathogenic —
RS1216093309 FLVCR1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
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