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
RS374043705 RSPH9 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374045033 PKP1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS374045395 FRAS1 Health Risk Conflicting classifications of pathogenicity —
RS374045590 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS374046216 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS374047326 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS374047961 ALS2 Health Risk Pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS374048423 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS374049568 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Neuronopathy
RS374049769 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS374049779 UBR1 Health Risk Pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS374050750 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS374051556 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS374052333 UBA5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 44
RS374052426 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Cutis laxa
RS374052581 MTOR Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, MTOR related
RS374053407 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS374054124 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS374055173 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS374055293 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS374055486 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS374055726 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS374056556 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS374057641 CPAP Health Risk Pathogenic/Likely pathogenic —
RS374058410 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374058542 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS374058652 COL18A1 Health Risk Pathogenic —
RS374058726 TTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374059459 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases
RS374062006 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS374063064 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS374063403 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS374063820 COMP Health Risk Conflicting classifications of pathogenicity —
RS374064624 AFF2 Health Risk Conflicting classifications of pathogenicity FRAXE, FRAXE
RS374064833 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS374065372 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS3740654 NDUFS3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS374065616 TCTN1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS374065697 NDUFA10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS374066182 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS374068891 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS374069629 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS374070003 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS374070511 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS374070555 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia of anesthesia
RS374070652 TRPM3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374071750 ATAD3A Health Risk Pathogenic —
RS374071862 SLC52A2 Health Risk Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS374073138 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS374075160 CTNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ocular cystinosis
RS374075200 CYB5R3 Health Risk Conflicting classifications of pathogenicity —
RS374075627 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS374076948 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS374077422 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS374078257 KCNQ4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 2A
RS374078532 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS374079882 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Aromatase deficiency
RS374080633 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS374081262 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374081925 CYP19A1 Health Risk Pathogenic —
RS374084427 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS374084791 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS374085402 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374086061 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374086268 ABCC6 Health Risk Pathogenic/Likely pathogenic Arterial calcification, generalized
RS374086655 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS374087393 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS374088118 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS374090050 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS374090457 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS374090568 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS374090900 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS374091487 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS374091667 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374091782 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS374092044 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, BMP1-related disorder
RS374093236 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS374094065 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS374094218 DDB2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group E
RS374094732 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374095521 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS374096293 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS374097344 IL21 Health Risk Conflicting classifications of pathogenicity —
RS374097441 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS374097903 FTCD Health Risk Conflicting classifications of pathogenicity Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
RS374098797 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS374099396 THSD4 Health Risk Conflicting classifications of pathogenicity —
RS374100005 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thrombocytopenia 2
RS374100131 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374100807 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS374102243 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS374102717 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, Inborn genetic diseases
RS374102892 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS374103443 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS3741040 AMPD3 Health Risk Pathogenic Erythrocyte AMP deaminase deficiency, AMPD3-related disorder
RS374104171 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder
RS374104309 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Inborn genetic diseases
RS3741050 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS374105000 DYM Health Risk Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1
RS374105452 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
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