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
RS755459581 P2RY12 Health Risk Pathogenic/Likely pathogenic Platelet-type bleeding disorder 8, Impaired ADP-induced platelet aggregation
RS755459875 TMEM216 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 2, Joubert syndrome
RS755461071 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS755461310 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS755461919 SLC25A26 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS755462552 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS755463796 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755464133 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS755464335 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS755464659 COL7A1 Health Risk Likely pathogenic COL7A1-related disorder, COL7A1-related disorder
RS755465037 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS755465811 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS755467080 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS755467137 MTRFR Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Combined oxidative phosphorylation defect type 7
RS755467514 CFAP74 Health Risk Pathogenic Ciliary dyskinesia, primary
RS755468508 SMOC1 Health Risk Conflicting classifications of pathogenicity —
RS755468547 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS755468667 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS755470297 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755471290 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755471385 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS755471554 STRC Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS755471995 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS755472707 ERBB2 Health Risk Conflicting classifications of pathogenicity Visceral neuropathy, familial
RS755475561 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Cowden syndrome 3
RS755475785 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS755476114 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS755476608 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS755476936 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS755477994 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS755478262 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Autosomal recessive Alport syndrome
RS755480221 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS755481648 OTOGL Health Risk Pathogenic —
RS755481878 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS755482148 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS755482452 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS755482658 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS755483803 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755483936 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS75548401 GBA1 Health Risk Conflicting classifications of pathogenicity Parkinson disease, late-onset
RS755484371 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS755484957 LAMB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755485474 PYGL Health Risk Conflicting classifications of pathogenicity —
RS755485519 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS755485552 TSHB Health Risk Pathogenic Isolated thyroid-stimulating hormone deficiency, Pituitary hypothyroidism
RS755486319 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS755486487 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS755486918 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS755486931 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755487513 POMGNT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS755487851 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755489065 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS755489411 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS755489770 THBD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755490059 SQOR Health Risk Pathogenic Sulfide quinone oxidoreductase deficiency, Sulfide quinone oxidoreductase deficiency
RS755490391 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755490967 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS755492182 ACTN2 Health Risk Likely pathogenic Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS755492444 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS755492501 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS755492644 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755493468 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS75549581 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS755496104 RYR1 Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS755496450 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS755498926 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS755500591 LGI4 Health Risk Pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS755501266 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS755501749 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS755501968 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS755502359 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS755502593 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS755502918 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS755503394 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS755504361 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS755505546 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS755506199 BICRA Health Risk Likely pathogenic —
RS755507236 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS755507922 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS755508624 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS755508725 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS755508926 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS755508971 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS755510106 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS755511614 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS755511752 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS755512507 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease, Gaucher disease
RS755514365 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755514774 EEF1AKMT4-ECE2;ALG3;EEF1AKMT4;MIR1224;VWA5B2 Health Risk Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS755515191 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS755515251 GLI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755515289 CASK Health Risk Likely pathogenic —
RS755515727 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS755516522 ZFHX3 Health Risk Conflicting classifications of pathogenicity ZFHX3-related disorder, ZFHX3-related disorder
RS755516700 ADAMTSL4 Health Risk Likely pathogenic Ectopia lentis et pupillae, Ectopia lentis 2
RS755517458 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS75551775 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS755517991 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS755519197 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS755519590 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
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