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
RS775656539 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS775657157 LARP7 Health Risk Pathogenic/Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS775657243 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS775657272 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS775657670 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS775658412 GLE1 Health Risk Pathogenic/Likely pathogenic Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS775658931 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS775659020 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS775659622 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS775659848 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS775660003 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS775660410 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775660447 COL11A1 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 37
RS775661457 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis
RS775661458 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS775661924 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS775662884 SEC61A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775663071 CREB3L3 Health Risk Conflicting classifications of pathogenicity —
RS775663094 HGSNAT Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 73, Mucopolysaccharidosis
RS775663263 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS775663363 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS775663612 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype
RS775663783 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS775664534 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS775664760 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS775664860 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS775666283 DCN Health Risk Conflicting classifications of pathogenicity Congenital stromal corneal dystrophy, Inborn genetic diseases
RS775667283 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775669419 KLF1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
RS775670175 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
RS775670722 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS775671027 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS775672135 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS775672255 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS775673237 DONSON Health Risk Pathogenic —
RS775673512 MBD5 Health Risk Conflicting classifications of pathogenicity Seizure, Intellectual disability
RS775673578 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS775673876 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775676341 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS775677708 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS775681854 IFT81 Health Risk Likely pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS775682083 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS775682151 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS775682673 BRWD3 Health Risk Conflicting classifications of pathogenicity BRWD3-related disorder, BRWD3-related disorder
RS775683268 PTPN23 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS775683960 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS775684274 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS775685508 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS775685559 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYH9-related disorder
RS775686301 OTOA Health Risk Conflicting classifications of pathogenicity —
RS775686458 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS775689247 GJA1 Health Risk Likely pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS775690041 FARS2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 77, Combined oxidative phosphorylation defect type 14
RS775692548 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Pheochromocytoma
RS775692885 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775694684 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS775694870 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS775695035 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS775695539 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL7A1-related disorder
RS775696083 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 28
RS775696136 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS775696326 DYM Health Risk Conflicting classifications of pathogenicity —
RS775697743 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS775698697 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS775699005 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Retinal dystrophy
RS775700421 FLCN Health Risk Conflicting classifications of pathogenicity Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS775700619 DNAJB13 Health Risk Pathogenic Primary ciliary dyskinesia 34, Primary ciliary dyskinesia 34
RS775701157 PSMB8 Health Risk Conflicting classifications of pathogenicity See cases, Proteosome-associated autoinflammatory syndrome
RS775701983 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS775702104 MVK Health Risk Likely pathogenic Porokeratosis 3, disseminated superficial actinic type
RS775702816 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS775704066 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia 1
RS775704953 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS775707011 ABCC6 Health Risk Conflicting classifications of pathogenicity —
RS775707895 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS775708467 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS775708703 RP1L1 Health Risk Pathogenic —
RS775708833 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS775708906 NDUFS8 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 2
RS775710328 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS77571059 IRF5 Health Risk risk factor Inflammatory bowel disease 14, susceptibility to
RS775710735 POMT2 Health Risk Likely pathogenic —
RS775710800 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS775711191 LOXHD1 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS775712041 CEP63 Health Risk Pathogenic —
RS775712594 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS775712660 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775712769 F5 Health Risk Conflicting classifications of pathogenicity Congenital factor V deficiency, Inborn genetic diseases
RS775712832 TRPM1 Health Risk Likely pathogenic —
RS775713184 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS775714153 FLNB Health Risk Pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS775714882 CHRNA2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Seizure
RS775715153 UPF3B Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS775716153 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS775716798 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS775716868 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 6, Meckel-Gruber syndrome
RS775717328 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS775717775 PNPT1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS775718026 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS775718859 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
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