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
RS779001393 VPS13C Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Gastric cancer
RS779002822 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS779003036 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS779003155 EBF3 Health Risk Pathogenic/Likely pathogenic Hypotonia, ataxia
RS779004079 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS779004090 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS779004315 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS779005784 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779007169 IFT140 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS779007406 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS779007436 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS779009256 NAA15 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 50
RS779009338 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS779010679 CEP290 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Nephronophthisis
RS779011052 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS779011569 CYP11B2 Health Risk Conflicting classifications of pathogenicity CYP11B2-related disorder, Corticosterone 18-monooxygenase deficiency
RS779012524 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS779012572 EYS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779012596 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS779013005 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS779013546 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS779014769 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS779015128 ACADSB Health Risk Likely pathogenic See cases, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS779015471 FOLR1;FOLR1-AS1 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS779015756 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779016475 CUBN Health Risk Conflicting classifications of pathogenicity Proteinuria, chronic benign
RS779017318 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS779017611 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS779017939 VPS13C Health Risk Pathogenic —
RS779018136 PLCB4 Health Risk Conflicting classifications of pathogenicity Auriculocondylar syndrome 2, Inborn genetic diseases
RS779018464 GJB2 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 3A
RS779018915 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS779018917 GGCX Health Risk Pathogenic/Likely pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
RS779018991 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS779019180 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS779019646 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Isolated thoracic aortic aneurysm
RS779019920 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS779020258 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779020826 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Seizures
RS779020831 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS779021847 GP1BB Health Risk Conflicting classifications of pathogenicity —
RS779022657 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779022887 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS779023149 LDHA Health Risk Likely pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS779023431 CNGA3 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS779023477 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779023917 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS779024326 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS779024959 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS77902523 DYM Health Risk Conflicting classifications of pathogenicity —
RS779025515 CPLANE1 Health Risk Pathogenic —
RS779025750 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS779026502 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS77902683 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS779027186 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS779027563 CNTNAP1 Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 7, Neuropathy
RS779027672 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS779028054 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS779028446 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS779028596 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS779028602 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS779029308 DDX41 Health Risk Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome
RS779029779 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Retinal dystrophy
RS779029827 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS779029870 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS779031634 ZFR Health Risk Conflicting classifications of pathogenicity Pure or complex autosomal recessive spastic paraplegia, Pure or complex autosomal recessive spastic paraplegia
RS779032507 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS779032904 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP1-related disorder
RS779033634 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779033858 KLRB1 Health Risk Conflicting classifications of pathogenicity —
RS779034609 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder
RS779034696 SIX3 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 2, Holoprosencephaly 2
RS779034900 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS779035642 CHRNA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
RS779037308 TYK2 Health Risk Likely pathogenic —
RS779038178 CDH23 Health Risk Pathogenic —
RS779038293 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS779038394 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS779040384 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS779040487 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Autosomal recessive nonsyndromic hearing loss 97
RS779040832 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS779040869 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS779040908 CCIN Health Risk Pathogenic Spermatogenic failure 91, Spermatogenic failure 91
RS779042130 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS779043705 PIGG Health Risk Likely pathogenic Intellectual disability, autosomal recessive 53
RS779043995 TG Health Risk Pathogenic Autoimmune thyroid disease, susceptibility to
RS779044548 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS779045480 VWF Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Clear cell carcinoma of kidney
RS779045727 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS779047261 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS779047683 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS779048359 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS779048554 F13B Health Risk Pathogenic Coagulation factor deficiency syndrome, Factor XIII
RS779049732 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS779050294 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS779050664 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS779051005 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS779051492 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS779052095 PDE6B Health Risk Pathogenic —
RS779053608 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
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