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
RS754457692 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS754457820 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS754458532 NEUROD1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus
RS754458926 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS754459138 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754459153 PRRT2 Health Risk Conflicting classifications of pathogenicity PRRT2-related disorder, PRRT2-related disorder
RS754460336 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS754460647 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS754460870 KLHL41 Health Risk Likely pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS754461779 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS754462063 DNAH9 Health Risk Pathogenic —
RS754463353 WASHC5 Health Risk Conflicting classifications of pathogenicity Ritscher-Schinzel syndrome 1, Hereditary spastic paraplegia 8
RS754465226 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2S
RS754465466 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS754465684 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS754466377 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS754467288 SOX17 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 3, Vesicoureteral reflux 3
RS754468217 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS754468827 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS754469339 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS754469538 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS754471166 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A3-related disorder
RS754472294 ESPN Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 36, Hearing loss
RS754473710 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS754474567 DACT1 Health Risk Conflicting classifications of pathogenicity —
RS754475064 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS754476100 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS754477154 APTX Health Risk Pathogenic —
RS754478799 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS754479025 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS754479443 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS754480431 SHH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SHH-related disorder
RS754481870 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS754483923 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS754483986 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS754484224 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS754484649 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS754486257 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS754487319 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS754487739 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754487754 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS754487821 ERBB4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, ERBB4-related disorder
RS754488798 CEP250 Health Risk Pathogenic —
RS754489357 PIGO Health Risk Likely pathogenic —
RS754489812 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS754490370 LOXHD1 Health Risk Likely pathogenic —
RS754491866 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS754492545 ILDR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42
RS754493061 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS754493263 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS754495060 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS754495845 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS754495912 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS754496465 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS754496700 AP1S1 Health Risk Pathogenic/Likely pathogenic MEDNIK syndrome, MEDNIK syndrome
RS754498075 AP4M1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 50, Spastic paraplegia
RS754498936 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS754499060 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS754500316 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS75450131 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS754501564 SPTA1 Health Risk Pathogenic —
RS754502950 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS754504711 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754504918 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS754505860 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS754506713 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS754506970 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS754507551 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS754507781 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS754508002 NPHP3 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis
RS754508360 OTOF Health Risk Conflicting classifications of pathogenicity —
RS754509225 TOR1A Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS754511534 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS754511830 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754512099 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS754512227 B3GAT3 Health Risk Pathogenic/Likely pathogenic Larsen-like syndrome, B3GAT3 type
RS754514332 CIT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754515125 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS754516430 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 2I
RS754516576 CAST Health Risk Pathogenic —
RS754516841 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS754517456 PIGT Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS754517968 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS754518146 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS754518299 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS754518522 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS754518742 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS754519573 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS754519730 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS754520138 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS754520650 OTOA Health Risk Likely pathogenic —
RS75452094 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS754521188 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS754521581 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS754521978 PRX Health Risk Pathogenic/Likely pathogenic Autosomal recessive Dejerine-Sottas syndrome, Charcot-Marie-Tooth disease type 4
RS754522209 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS754522887 YWHAZ Health Risk Pathogenic Popov-Chang syndrome, Popov-Chang syndrome
RS754523289 BSND Health Risk Pathogenic/Likely pathogenic Bartter disease type 4A, Bartter syndrome
RS754524673 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754524705 STX16 Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1B
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