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
RS764382582 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Multiple pterygium syndrome
RS764383329 KCNK4 Health Risk Conflicting classifications of pathogenicity Facial dysmorphism, hypertrichosis
RS764384479 POP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764384490 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS764384987 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS764385703 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS764386648 PEX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Peroxisome biogenesis disorder 5A (Zellweger)
RS764386986 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS764388085 CCBE1 Health Risk Likely pathogenic —
RS764388204 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764388462 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS764389018 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS764389829 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764390911 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS764390927 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS764393326 RTN4IP1 Health Risk Conflicting classifications of pathogenicity Optic atrophy 10 with or without ataxia, intellectual disability
RS764393572 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS764393737 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS764394130 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS764394936 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS764394943 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS764395582 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS764396074 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS764396564 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, HOGA1-related disorder
RS764396738 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS764397417 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS764398699 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS764398831 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS764398895 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS764399373 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS764400299 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764401169 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS764401478 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS76440173 SLC33A1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 42
RS764401781 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764402372 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS764402416 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS764402730 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS764402992 ARID1B Health Risk Conflicting classifications of pathogenicity ARID1B-related disorder, ARID1B-related disorder
RS764404042 EPHB4 Health Risk Likely pathogenic EPHB4-related disorder, EPHB4-related disorder
RS764404206 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS764405009 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764405049 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS764405265 ITGB4 Health Risk Pathogenic —
RS764406724 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS764406738 WDR72 Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS764406913 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS764407421 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
RS764407713 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS764408631 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hyperparathyroidism
RS764409631 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS764409952 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS764410072 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS764412001 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS764412921 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS764413796 NBEAL2 Health Risk Pathogenic —
RS764414399 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764414504 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS764415074 NDUFA10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764415288 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS764417105 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS764417252 NTRK1 Health Risk Conflicting classifications of pathogenicity Familial medullary thyroid carcinoma, Hereditary insensitivity to pain with anhidrosis
RS764417517 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS764417585 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS764418169 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS764418312 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1B-related disorder
RS764418389 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS764420497 BEST1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
RS764420831 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS76442271 KCTD17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Myoclonic dystonia 26
RS764423616 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Melanoma
RS764424917 TECTA Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS764424984 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia, Citrullinemia
RS764425655 SCNN1G Health Risk Likely pathogenic Pseudohypoaldosteronism, type IB1
RS764427452 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS764429761 SPEG Health Risk Pathogenic Myopathy, centronuclear
RS764429803 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS764430950 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764431330 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS764431397 SZT2 Health Risk Pathogenic —
RS764432229 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS764432550 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS764432820 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS764433016 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, Differences in sex development
RS764434091 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764434579 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3-related early-onset multisystem autoimmune disease, Hyper-IgE recurrent infection syndrome 1
RS764434977 RASA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
RS764435162 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS764435582 ABCA4 Health Risk Likely pathogenic —
RS764435740 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS764435977 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS764436301 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS764436402 HECW2 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS764437671 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS764438301 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS764439012 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis
RS764439278 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS764439412 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS764440077 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764440472 MBTPS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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