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
RS587776488 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776492 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776497 ECHS1 Health Risk Pathogenic Leigh syndrome, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS587776498 ECHS1 Health Risk Pathogenic Leigh syndrome, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS587776507 ACKR1 Health Risk Pathogenic DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE
RS587776508 MTRFR Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 7, Abnormal brain morphology
RS587776509 CANT1 Health Risk Pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS587776510 CANT1 Health Risk Pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS587776512 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS587776513 TACO1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS587776514 RFX6 Health Risk Pathogenic Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RS587776515 RFX6 Health Risk Pathogenic Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Diabetes mellitus
RS587776516 RFX6 Health Risk Pathogenic Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RS587776517 RFX6 Health Risk Pathogenic Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RS587776518 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS587776519 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS587776520 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial multiple polyposis syndrome
RS587776521 SRD5A3 Health Risk Pathogenic SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome
RS587776522 MIR96 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 50, Autosomal dominant nonsyndromic hearing loss 50
RS587776523 MIR96 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 50, Autosomal dominant nonsyndromic hearing loss 50
RS587776524 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS587776525 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, Mucopolysaccharidosis
RS587776526 GLB1 Health Risk Pathogenic GM1-gangliosidosis, type I
RS587776527 PALB2 Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS587776531 MPLKIP Health Risk Pathogenic Trichothiodystrophy 4, nonphotosensitive
RS587776532 MPLKIP Health Risk Pathogenic Trichothiodystrophy 4, nonphotosensitive
RS587776533 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS587776534 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS587776535 FIGLA Health Risk Pathogenic Premature ovarian failure 6, Premature ovarian failure 6
RS587776536 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS587776537 SETX Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS587776538 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS587776539 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS587776540 EXT1 Health Risk Pathogenic Chondrosarcoma, Chondrosarcoma
RS587776541 SOX9 Health Risk Pathogenic CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, Camptomelic dysplasia
RS587776542 NHLRC1 Health Risk Pathogenic Myoclonic epilepsy of Lafora 2, Lafora disease
RS587776543 NHLRC1 Health Risk Pathogenic Myoclonic epilepsy of Lafora 2, Myoclonic epilepsy of Lafora 2
RS587776544 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS587776546 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1
RS587776547 ATM Health Risk Pathogenic/Likely pathogenic T-cell prolymphocytic leukemia, Hereditary cancer-predisposing syndrome
RS587776549 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587776550 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS587776551 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587776552 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587776553 EPM2A Health Risk Pathogenic Myoclonic epilepsy of Lafora 1, Lafora disease
RS587776554 EPM2A Health Risk Likely pathogenic Myoclonic epilepsy of Lafora 1, Lafora disease
RS587776557 CDC73 Health Risk Pathogenic Cystic parathyroid adenoma, Cystic parathyroid adenoma
RS587776558 CDC73 Health Risk Pathogenic Hyperparathyroidism 1, Parathyroid adenoma
RS587776559 CDC73 Health Risk Likely pathogenic Hyperparathyroidism 2 with jaw tumors, Hereditary cancer-predisposing syndrome
RS587776560 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS587776561 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS587776562 NF2 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 2
RS587776563 NF2 Health Risk Pathogenic Meningioma, Meningioma
RS587776564 NF2 Health Risk Pathogenic SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis
RS587776565 NF2 Health Risk Pathogenic SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis
RS587776566 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS587776567 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS587776568 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Curry-Hall syndrome
RS587776569 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS587776570 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS587776571 PAX6 Health Risk Pathogenic Autosomal dominant keratitis, Autosomal dominant keratitis
RS587776572 PAX6 Health Risk Likely pathogenic Foveal hypoplasia 1, Foveal hypoplasia 1
RS587776573 WT1 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS587776574 WT1 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS587776575 WT1 Health Risk Pathogenic Frasier syndrome, Frasier syndrome
RS587776576 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS587776577 WT1 Health Risk Pathogenic/Likely pathogenic Frasier syndrome, Nephrotic syndrome
RS587776578 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS587776579 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS587776580 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS587776581 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS587776582 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome
RS587776583 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, TCOF1-related disorder
RS587776584 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS587776585 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS587776586 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS587776587 ENAM Health Risk Pathogenic Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local
RS587776588 ENAM Health Risk Pathogenic/Likely pathogenic Amelogenesis imperfecta type 1C, Amelogenesis imperfecta - hypoplastic autosomal dominant - local
RS587776589 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS587776590 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 11, Retinal dystrophy
RS587776591 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS587776592 ITCH Health Risk Pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS587776593 APTX Health Risk Pathogenic Ataxia, early-onset
RS587776594 APTX Health Risk Pathogenic Ataxia, early-onset
RS587776595 MFRP Health Risk Pathogenic Nanophthalmos 2, Isolated microphthalmia 5
RS587776596 MFRP Health Risk Pathogenic Nanophthalmos 2, Isolated microphthalmia 5
RS587776597 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS587776599 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS587776600 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS587776601 SLURP1 Health Risk Pathogenic Acroerythrokeratoderma, Acroerythrokeratoderma
RS587776602 SLURP1 Health Risk Pathogenic Acroerythrokeratoderma, Acroerythrokeratoderma
RS587776603 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS587776604 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS587776605 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS587776606 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS587776607 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS587776608 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS587776609 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS587776611 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS587776612 ZEB2 Health Risk Likely pathogenic —
« Prev 1 ... 2986 2987 2988 2989 2990 2991 2992 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →