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
RS775284577 CYP11B2 Health Risk Pathogenic —
RS775284878 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS775285273 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Joubert syndrome 21
RS775285603 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS775286973 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS775287626 GFM1 Health Risk Likely pathogenic —
RS775288140 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica inversa
RS775288964 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS775289296 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS775289921 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS775290860 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS775291283 TACO1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 8
RS775291294 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Inborn genetic diseases
RS775291555 IARS1 Health Risk Pathogenic/Likely pathogenic —
RS775292545 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS775292940 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS775292946 BLTP1 Health Risk Likely pathogenic Severe hydrocephalus, Arthrogryposis multiplex congenita
RS775293551 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS775293712 DLG3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 90
RS775294431 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS775295536 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS775295739 RARS2 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Pontoneocerebellar hypoplasia
RS775297065 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS775297352 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS775297664 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS775297789 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS775298474 SNX10 Health Risk Likely pathogenic —
RS775299709 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS775299800 ACAD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775300515 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS775301566 FLNB Health Risk Pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS775302364 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS775303221 WFS1 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS775303474 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS775304664 CC2D2A Health Risk Conflicting classifications of pathogenicity COACH syndrome 1, Joubert syndrome
RS775304724 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS775305020 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS775305093 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS775305251 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS775308893 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS775309705 YWHAZ Health Risk Pathogenic Popov-Chang syndrome, Popov-Chang syndrome
RS775309866 PCDH19 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS775310584 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775311082 COL7A1 Health Risk Conflicting classifications of pathogenicity COL7A1-related disorder, COL7A1-related disorder
RS775312348 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS775312865 TRAF3 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS775317639 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS77531839 FGA Health Risk Conflicting classifications of pathogenicity —
RS775318947 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS775318979 ABCA12 Health Risk Likely pathogenic —
RS775320614 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS775320932 DLX6 Health Risk Conflicting classifications of pathogenicity —
RS775321736 CDC27 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS775324036 GYS1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS775324176 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS775325159 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS775325548 RAB27A Health Risk Likely pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS775326454 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS775327364 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775328436 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS775329368 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775329522 TMEM231 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 20, Meckel syndrome
RS775329814 GNAT1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 3, GNAT1-related disorder
RS775329935 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775331933 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775332304 CNGA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Achromatopsia 2
RS775332895 CHCHD10 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
RS775333857 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS775334320 TULP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 15
RS775334473 SPRED1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Legius syndrome
RS775334790 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS775335205 ALPK3 Health Risk Pathogenic ALPK3-related disorder, Ovarian serous cystadenocarcinoma
RS775335297 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS775335476 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS775338609 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS775339017 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS775340790 UNC45B Health Risk Pathogenic Myofibrillar myopathy 11, Myofibrillar myopathy 11
RS775341386 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS775341740 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Netherton syndrome
RS775344663 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS775345164 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Inborn genetic diseases
RS775345294 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS775345377 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS775345513 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS775346785 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS775347185 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Epilepsy
RS775348905 IL11RA Health Risk Pathogenic —
RS775349013 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS775349897 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS77535003 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity RAB3GAP1-related disorder, RAB3GAP1-related disorder
RS775351239 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS775353413 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS775354685 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775354826 MRPS22 Health Risk Pathogenic Hypotonia with lactic acidemia and hyperammonemia, 46 XX gonadal dysgenesis
RS775355156 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS775355718 PMS2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS775357090 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS775357802 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775357840 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS775359476 GNPTG Health Risk Likely pathogenic —
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