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
RS1290985047 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1290991040 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1290996849 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1291012482 COL4A3 Health Risk Likely pathogenic —
RS1291016764 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1291031675 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1291044978 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1291061962 CLCN7 Health Risk Pathogenic/Likely pathogenic Autosomal dominant osteopetrosis 2, Disorder of bone
RS1291080436 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 3
RS1291093292 GNPTG Health Risk Pathogenic —
RS1291142030 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1291147781 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1291157023 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1291160651 HBB Health Risk Conflicting classifications of pathogenicity —
RS1291162195 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1291177151 IRX4 Health Risk Pathogenic Ventricular septal defect 1, Ventricular septal defect 1
RS1291189006 WNT9B Health Risk Likely pathogenic Renal dysplasia, Chronic kidney disease
RS1291192594 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1291197898 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1291206526 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1291212529 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1291214871 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1291217267 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1291226969 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1291249200 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1291249685 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1291258464 CPLANE1 Health Risk Pathogenic —
RS1291271388 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome 8
RS1291275281 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1291288543 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1291304798 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS1291311803 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1291314034 SATB1 Health Risk Likely pathogenic Inborn genetic diseases, Kohlschutter-Tonz syndrome-like
RS1291318209 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1291324306 TSHR Health Risk Pathogenic Hypothyroidism due to TSH receptor mutations, Smith-Lemli-Opitz syndrome
RS1291325133 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1291335611 LYSET Health Risk Likely pathogenic Dysostosis multiplex, Ain-Naz type
RS1291377611 HSD17B4 Health Risk Pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS1291377834 GNPTG Health Risk Pathogenic —
RS12913832 HERC2 Health Risk association SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1291398331 NPHS2 Health Risk Likely pathogenic Familial idiopathic steroid-resistant nephrotic syndrome, Nephrotic syndrome
RS1291400582 CEP152 Health Risk Likely pathogenic —
RS1291408658 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1291422553 CTNND1 Health Risk Conflicting classifications of pathogenicity —
RS1291461148 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1291473151 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1291487750 MEGF10 Health Risk Likely pathogenic —
RS1291490743 SLC39A14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypermanganesemia with dystonia 2
RS1291507545 SDHD Health Risk Likely pathogenic Pheochromocytoma, Cowden syndrome 3
RS1291510415 PRKG2 Health Risk Pathogenic Acromesomelic dysplasia 4, Acromesomelic dysplasia 4
RS1291519904 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS1291520734 DDX41 Health Risk Pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome
RS1291524243 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1291540757 LCT Health Risk Pathogenic —
RS1291550449 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1291555996 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS1291587960 PIKFYVE Health Risk Likely pathogenic PIKFYVE-related disorder, PIKFYVE-related disorder
RS1291590169 CAD Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 50
RS1291600097 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1291600656 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1291613591 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1291655627 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, Thyroid cancer
RS1291666293 ASPM Health Risk Pathogenic —
RS1291672671 ABCA12 Health Risk Likely pathogenic —
RS1291689114 MCIDAS Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1291699841 TRMU Health Risk Likely pathogenic —
RS1291722156 ALG11 Health Risk Likely pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS1291730464 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1291740270 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1291744448 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS1291753612 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1291756890 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1291760879 ELP1 Health Risk Pathogenic ELP1-related disorder, Medulloblastoma
RS1291792579 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS1291802895 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS1291816133 LOC112449713;PHKB Health Risk Likely pathogenic —
RS1291827891 MYO7A Health Risk Pathogenic —
RS1291829047 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1291837328 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1291842090 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1291848804 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer
RS1291867456 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1291929434 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1291935778 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1291938544 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1291948462 COL4A3 Health Risk Conflicting classifications of pathogenicity —
RS1291982378 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1291997106 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1291999233 SKIC3 Health Risk Pathogenic —
RS1292006620 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1292030955 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1292032609 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Hurler syndrome
RS1292041526 WDR4 Health Risk Likely pathogenic Microcephaly, growth deficiency
RS1292042317 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS1292046736 COL1A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS1292048668 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Intellectual disability
RS1292050472 CDH23 Health Risk Pathogenic Usher syndrome type 1, Pituitary adenoma 5
RS1292054310 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1292056366 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1292080462 MYH3 Health Risk Likely pathogenic —
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