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
RS75645675 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Retinal dystrophy
RS756456881 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS756457861 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Cardiovascular phenotype
RS756458346 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Inborn genetic diseases
RS756459525 SUN5 Health Risk Pathogenic Spermatogenic failure 16, Spermatogenic failure 16
RS756459860 BUB1B Health Risk Pathogenic/Likely pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS756460108 TECTA Health Risk Conflicting classifications of pathogenicity —
RS756460900 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome, Febrile seizures
RS756461496 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Inborn genetic diseases
RS756461524 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS756461569 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS756463088 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS756463217 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS756463606 MED25 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS756463775 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756464306 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS756464554 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Erythrokeratodermia variabilis et progressiva 6
RS756464859 FOXRED1 Health Risk Pathogenic —
RS756465236 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS756465544 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS756466043 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS756466484 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS756467027 PROC Health Risk Conflicting classifications of pathogenicity —
RS756467247 GJB2 Health Risk Pathogenic/Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS756467431 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
RS756467468 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS756467809 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS756467921 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS756468029 TSHR Health Risk Pathogenic/Likely pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS756468318 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS756468554 CD40LG Health Risk Likely pathogenic —
RS756468711 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS756469140 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS756469612 CEP63 Health Risk Pathogenic —
RS756470766 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS756471132 MPDU1 Health Risk Conflicting classifications of pathogenicity MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS756471180 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS756471447 PHIP Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS756471925 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, HPS6-related disorder
RS756471926 WDR72 Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS756472919 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS756473581 LRP2 Health Risk Conflicting classifications of pathogenicity —
RS756474198 NDP Health Risk Conflicting classifications of pathogenicity —
RS756474485 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS756474608 ANO6 Health Risk Pathogenic SCOTT SYNDROME, Uterine corpus endometrial carcinoma
RS756475184 TTN Health Risk Conflicting classifications of pathogenicity —
RS756475595 SEMA4A Health Risk Conflicting classifications of pathogenicity —
RS756475711 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS756477043 FMO3 Health Risk Likely pathogenic —
RS756477886 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS756479236 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS756479242 FOXC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Axenfeld-Rieger syndrome type 3
RS756480297 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS756480888 BLOC1S6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS75648145 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS756483143 TNNC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z
RS756483178 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS756484720 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Hearing loss
RS756485244 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS756486044 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS756487177 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS756487270 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS756487822 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS756488394 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS756489141 BRAT1 Health Risk Pathogenic/Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS756489447 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS756489745 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS756489804 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS756490492 CLPP Health Risk Pathogenic Perrault syndrome 3, Perrault syndrome 3
RS756490783 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
RS756491638 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS756492434 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS756493732 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS756494164 EFL1 Health Risk Conflicting classifications of pathogenicity Shwachman-Diamond syndrome 2, Shwachman syndrome
RS756496192 ACTA2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS756496671 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS756497515 PIK3CD Health Risk Conflicting classifications of pathogenicity Immunodeficiency 14, Inborn genetic diseases
RS756497616 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS756498434 BCL11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756499058 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS756499246 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756499458 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756500067 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS756500246 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS756500934 NTRK2 Health Risk Likely pathogenic —
RS756501758 SLC38A8 Health Risk Pathogenic —
RS756501972 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS756502783 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS756502974 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS756503362 GBA2 Health Risk Pathogenic —
RS756503608 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS756503892 COQ8A Health Risk Pathogenic —
RS756504992 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS756506590 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS756506700 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS756506775 PEPD Health Risk Pathogenic —
RS756507508 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS756507716 NDUFAF6 Health Risk Pathogenic/Likely pathogenic —
RS756511227 COL11A1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS75651130 WNT7A Health Risk Conflicting classifications of pathogenicity WNT7A-related disorder, WNT7A-related disorder
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