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
RS773431867 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS773432002 ELP2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, ELP2-related disorder
RS773432148 MYO3A Health Risk Pathogenic/Likely pathogenic —
RS773433541 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS773433578 DUOX2 Health Risk Pathogenic —
RS773433623 PDHB Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS773433679 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS773435099 FTL Health Risk Pathogenic —
RS773435101 GPNMB Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS773435694 GLMN Health Risk Pathogenic/Likely pathogenic Glomuvenous malformation, GLMN-related disorder
RS773436050 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS773436223 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773436322 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS773436512 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS773436764 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS773437153 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS773437219 SYNJ1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 53
RS773440011 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS773440873 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS773441320 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS773441342 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS773441535 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS773442562 GLMN Health Risk Pathogenic/Likely pathogenic Glomuvenous malformation, GLMN-related disorder
RS773442698 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS773443475 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS773443949 HFE Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Juvenile hemochromatosis
RS773445382 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS773445398 GPSM2 Health Risk Likely pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS773445582 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS773445915 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773446161 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS773446481 SATB1 Health Risk Pathogenic —
RS773447251 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS773447981 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS773448523 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Bronchiectasis with or without elevated sweat chloride 1
RS773449118 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS773449705 CDH23 Health Risk Pathogenic —
RS773450573 PNPO Health Risk Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures, PNPO-related disorder
RS773450608 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS773452586 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS773453129 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS773455971 TPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77345643 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS773456900 XDH Health Risk Pathogenic Xanthinuria type II, Hereditary xanthinuria type 1
RS773457070 LAMA1 Health Risk Likely pathogenic —
RS773457218 GRXCR2 Health Risk Pathogenic Hearing loss, autosomal recessive
RS773457236 COG4 Health Risk Pathogenic —
RS773457718 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773457837 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, FRAS1-related disorder
RS773459488 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS773460120 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS773460207 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS773461233 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS773461483 PIK3R1 Health Risk Likely pathogenic SHORT syndrome, SHORT syndrome
RS773462133 USH2A Health Risk Pathogenic —
RS773462569 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS773462879 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS773463683 CHRNG Health Risk Conflicting classifications of pathogenicity —
RS773464534 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS773464867 CDH23 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Pituitary adenoma 5
RS773465087 OTOF Health Risk Likely pathogenic —
RS773465809 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS773469926 FREM1 Health Risk Pathogenic/Likely pathogenic Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS773470671 RMND1 Health Risk Pathogenic Mitochondrial disease, Familial cancer of breast
RS773472208 ACAD8 Health Risk Pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS773473193 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS773473369 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS773473702 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS773473771 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, classic hepatic
RS773475226 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS773476384 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS773476849 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773477666 COG4 Health Risk Conflicting classifications of pathogenicity COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS773477776 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS773478778 MPO Health Risk Likely pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS773479372 CD2AP Health Risk Pathogenic Focal segmental glomerulosclerosis 3, susceptibility to
RS773480549 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS773481064 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS773482640 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS773484808 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS773486280 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS773486338 FECH Health Risk Pathogenic —
RS773489265 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases
RS773490671 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS773491386 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS773491435 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS773492223 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS773492439 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773493556 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS773494626 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS773495153 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, Inborn genetic diseases
RS773495985 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS773496318 NDUFA13 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 28
RS773496706 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS773496891 NEK1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS773497189 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS773497972 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Late-onset retinal degeneration, Isolated microphthalmia 5
RS773498002 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS773498177 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS773499329 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
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