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
RS1404477615 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS140448992 CHD3 Health Risk Conflicting classifications of pathogenicity CHD3-related disorder, Snijders Blok-Campeau syndrome
RS1404492484 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1404507934 CEP290 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 6, Meckel-Gruber syndrome
RS140451075 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS140451238 ITK Health Risk Pathogenic Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS140451304 CFAP410 Health Risk Pathogenic/Likely pathogenic Axial spondylometaphyseal dysplasia, Cone dystrophy
RS1404513559 ZFPM2 Health Risk Likely pathogenic 46, XY sex reversal 9
RS1404519340 HPS5 Health Risk Pathogenic —
RS140452381 KCNQ1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS1404524040 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1404524516 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS140453525 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1404537579 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1404545085 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS140454738 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS140454899 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS1404554956 PYROXD1 Health Risk Likely pathogenic —
RS1404556956 GLI3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GLI3-related disorder
RS1404557708 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS140455771 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1404574866 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS140457997 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS140459621 LAMB1 Health Risk Likely pathogenic —
RS140459879 CCBE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1
RS140460108 PYROXD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Myofibrillar myopathy 8
RS140460765 DPP6 Health Risk Conflicting classifications of pathogenicity DPP6-related disorder, DPP6-related disorder
RS140461431 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS1404621140 NPHP3 Health Risk Likely pathogenic NPHP3-related Meckel-like syndrome, NPHP3-related Meckel-like syndrome
RS140462252 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS140462567 LIG3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140462708 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS140463309 CLCN2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II
RS140463382 ANO6 Health Risk Conflicting classifications of pathogenicity —
RS1404641251 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS140464170 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Inborn genetic diseases
RS140464171 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, Inborn genetic diseases
RS140464432 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS140466069 SPTBN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140466726 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS140467171 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MARS-related disorder
RS1404676956 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS140467698 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS140468248 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS140468333 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1404685640 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS140468997 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140469160 NPHP1 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 1, Joubert syndrome with renal defect
RS140469169 PDE6C Health Risk Conflicting classifications of pathogenicity PDE6C-related disorder, PDE6C-related disorder
RS140469324 TLR5 Health Risk Conflicting classifications of pathogenicity —
RS140470350 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMB3-related disorder
RS140470472 MLPH Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 3, Griscelli syndrome type 3
RS140470576 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS140470927 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS140471094 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS140471516 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1404723529 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Inborn genetic diseases
RS1404724194 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS140472463 GRIK2 Health Risk Likely pathogenic —
RS1404726383 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS140472977 PTPRS Health Risk Likely pathogenic NK-cell enteropathy, NK-cell enteropathy
RS140473672 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS140474226 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1404744271 CHRNG Health Risk Likely pathogenic Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS140475004 CPOX Health Risk Conflicting classifications of pathogenicity —
RS1404756199 COL9A1 Health Risk Pathogenic/Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS140475976 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS140476054 EFHC1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS140478280 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1404787586 MYH6 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1404795980 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS140479817 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS140479999 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1404801471 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1404806019 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS140481433 TNR Health Risk Conflicting classifications of pathogenicity Parkinson disease, Inborn genetic diseases
RS1404814811 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS140481562 SLC27A4 Health Risk Conflicting classifications of pathogenicity SLC27A4-related disorder, Inborn genetic diseases
RS140481641 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS140481863 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS140482171 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS1404823974 RDH5 Health Risk Conflicting classifications of pathogenicity —
RS140482502 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS140482516 PADI3 Health Risk Pathogenic/Likely pathogenic Central centrifugal cicatricial alopecia, Uncombable hair syndrome 1
RS140482532 SDR9C7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140483001 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS140484776 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140485834 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS140486644 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS140486686 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, CIITA-related disorder
RS140487302 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome type 2A
RS140488274 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Wolman disease
RS1404888504 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1404903521 KITLG Health Risk Pathogenic Waardenburg syndrome, IIa 2F
RS140490467 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1404904752 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS140491072 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS140491601 WNT7A Health Risk Conflicting classifications of pathogenicity Santos syndrome, Fuhrmann syndrome
RS140491750 PPP2R5D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140492479 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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