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
RS387906458 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS387906459 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS387906460 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Thrombophilia
RS387906461 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS387906462 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS387906463 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS387906464 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS387906465 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS387906466 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS387906468 G6PD Health Risk Pathogenic/Likely pathogenic G6PD PUERTO LIMON, Anemia
RS387906472 ALAS2 Health Risk Pathogenic/Likely pathogenic X-linked erythropoietic protoporphyria, See cases
RS387906473 ALAS2 Health Risk Pathogenic X-linked erythropoietic protoporphyria, X-linked erythropoietic protoporphyria
RS387906474 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS387906477 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS387906478 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS387906480 F9 Health Risk Conflicting classifications of pathogenicity Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS387906481 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS387906482 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS387906483 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS387906484 OCRL Health Risk Pathogenic Lowe syndrome, Dent disease type 2
RS387906485 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS387906486 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS387906487 AMELX Health Risk Pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS387906488 AMELX Health Risk Pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS387906489 AMELX Health Risk Likely pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS387906490 AMELX Health Risk Pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS387906491 AMELX Health Risk Pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS387906492 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS387906493 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS387906494 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, ABCD1-related disorder
RS387906495 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS387906496 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS387906497 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS387906498 ZIC3 Health Risk Pathogenic Congenital heart defects, multiple types
RS387906499 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS387906500 AIFM1 Health Risk Pathogenic Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy
RS387906501 SLC16A2 Health Risk Pathogenic/Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS387906502 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS387906504 IDUA Health Risk Pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS387906505 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
RS387906506 F10 Health Risk Pathogenic Factor X deficiency, Factor X deficiency
RS387906507 F7 Health Risk Pathogenic Factor VII deficiency, Factor VII deficiency
RS387906508 F7 Health Risk Pathogenic Factor VII deficiency, Factor VII deficiency
RS387906509 C7 Health Risk Pathogenic Complement component 7 deficiency, Complement component 7 deficiency
RS387906510 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS387906511 AVP Health Risk Pathogenic Neurohypophyseal diabetes insipidus, AVP-related disorder
RS387906512 AVP Health Risk Pathogenic Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus
RS387906515 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS387906516 ABL1 Health Risk Pathogenic Leukemia, Philadelphia chromosome-positive
RS387906517 ABL1 Health Risk Pathogenic Leukemia, Philadelphia chromosome-positive
RS387906518 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS387906519 RHAG Health Risk Pathogenic Rh-null, regulator type
RS387906520 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS387906521 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS387906522 F2 Health Risk Pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS387906523 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS387906525 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS387906526 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS387906527 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS387906528 ABCB4 Health Risk Pathogenic Low phospholipid associated cholelithiasis, Cholestasis
RS387906529 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS387906530 PAX2 Health Risk Pathogenic/Likely pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS387906533 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia 1, Anauxetic dysplasia
RS387906534 ACAN Health Risk Pathogenic Spondyloepiphyseal dysplasia, Kimberley type
RS387906536 LYZ Health Risk Pathogenic Familial visceral amyloidosis, Ostertag type
RS387906538 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS387906541 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Symmetrical dyschromatosis of extremities
RS387906542 HOXA13 Health Risk Pathogenic Hand-foot-genital syndrome, Hand-foot-genital syndrome
RS387906547 FBN1 Health Risk Pathogenic Neonatal Marfan syndrome, Neonatal Marfan syndrome
RS387906548 FBN1 Health Risk Pathogenic Neonatal Marfan syndrome, Marfan syndrome
RS387906549 FTH1 Health Risk Pathogenic Hemochromatosis type 5, Hemochromatosis type 5
RS387906551 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS387906554 C5 Health Risk Pathogenic Complement component 5 deficiency, Complement component 5 deficiency
RS387906555 DCC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS387906557 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS387906558 COL2A1 Health Risk Pathogenic Avascular necrosis of femoral head, primary
RS387906560 TYRP1 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 3, Albinism
RS387906561 TYRP1 Health Risk Pathogenic Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS387906562 TYRP1 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR
RS387906563 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS387906566 SLC4A1 Health Risk Pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS387906567 APOE Health Risk Likely pathogenic Familial type 3 hyperlipoproteinemia, Familial type 3 hyperlipoproteinemia
RS387906569 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia
RS387906570 APOA1 Health Risk Pathogenic Hypoalphalipoproteinemia, primary
RS387906571 APOA1 Health Risk Pathogenic Familial amyloid polyneuropathy, Iowa type
RS387906572 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS387906574 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Abnormality of the nervous system
RS387906575 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS387906576 ACE Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS387906577 AGTR1 Health Risk Likely pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS387906578 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Large fontanelles
RS387906579 ACY1 Health Risk Pathogenic Aminoacylase 1 deficiency, Aminoacylase 1 deficiency
RS387906580 AFP Health Risk Pathogenic Alpha-fetoprotein deficiency, Alpha-fetoprotein deficiency
RS387906581 AK2 Health Risk Pathogenic Reticular dysgenesis, Reticular dysgenesis
RS387906582 AK1 Health Risk Pathogenic Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
RS387906583 AK1 Health Risk Pathogenic Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
RS387906584 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS387906586 FLNC Health Risk Pathogenic/Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Distal myopathy with posterior leg and anterior hand involvement
RS387906587 FLNC Health Risk Pathogenic/Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS387906588 ACVR1 Health Risk Pathogenic Progressive myositis ossificans, Neoplasm
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