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
RS1255627156 SKIC2 Health Risk Pathogenic —
RS1255634399 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1255635522 NPR2 Health Risk Pathogenic/Likely pathogenic Tall stature-scoliosis-macrodactyly of the great toes syndrome, Acromesomelic dysplasia 1
RS1255638075 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
RS1255667756 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1255681916 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1255698056 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1255699601 TUBB4A Health Risk Likely pathogenic —
RS1255727604 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS1255730342 SLC39A4 Health Risk Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS1255733467 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1255733657 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1255742539 FRAS1 Health Risk Pathogenic —
RS1255744065 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1255744452 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1255748366 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1255750954 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS1255770587 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS1255777033 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1255779642 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1255802415 SMAD6 Health Risk Likely pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1255828000 UBR1 Health Risk Likely pathogenic —
RS1255836046 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1255838105 DUOX2 Health Risk Likely pathogenic —
RS1255840091 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1255841566 PAX1 Health Risk Pathogenic —
RS1255849432 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS1255855620 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS1255892076 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1255903649 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1255908000 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS1255911887 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS1255916068 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1255919164 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1255940179 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1255952340 CTSK Health Risk Likely pathogenic —
RS1255961940 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1255988475 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1255988597 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1256028809 RTTN Health Risk Pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1256029497 ARPC1B Health Risk Pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
RS1256036525 SPG11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 11
RS1256037063 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1256047792 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1256049181 DRD4 Health Risk Conflicting classifications of pathogenicity Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder
RS1256078127 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Hereditary spastic paraplegia
RS1256082707 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS1256092775 OSTM1 Health Risk Pathogenic —
RS1256094664 MYO15A Health Risk Pathogenic —
RS1256103643 MC2R Health Risk Pathogenic/Likely pathogenic —
RS1256144022 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1256152851 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1256155089 KCNE1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1256164950 CERS3 Health Risk Likely pathogenic Abnormality of the skin, Abnormality of the skin
RS1256178504 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS12562058 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS1256212335 CHST14 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, musculocontractural type
RS1256215388 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1256250558 GPAA1 Health Risk Likely pathogenic —
RS1256250716 SLC38A8 Health Risk Pathogenic —
RS1256260277 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1256311452 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1256337877 NAGS Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III
RS1256347636 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS1256347904 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS1256349457 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1256350761 ZNF292 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal dominant 64
RS1256371424 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen phosphorylase kinase deficiency
RS1256376226 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS1256402686 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS1256417163 ZNF292 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1256418853 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS1256419231 GNE Health Risk Likely pathogenic GNE myopathy, Sialuria
RS1256470015 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1256482040 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1256482530 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1256488073 MRPL3 Health Risk Likely pathogenic Neonatal encephalopathy, Neonatal encephalopathy
RS1256505387 COL4A3 Health Risk Likely pathogenic Alport syndrome, COL4A3-related disorder
RS1256507861 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1256541161 EFTUD2 Health Risk Pathogenic/Likely pathogenic —
RS1256580853 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1256610157 MED13 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1256621322 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS1256629719 KIF14 Health Risk Conflicting classifications of pathogenicity Microcephaly 20, primary
RS1256695300 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1256710740 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1256710897 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1256727206 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1256735931 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1256753725 PJVK Health Risk Pathogenic —
RS1256773607 PIGW Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
RS1256778304 MYOF Health Risk Pathogenic Angioedema, hereditary
RS1256783641 SIK1 Health Risk Likely pathogenic Global developmental delay, Language disorder
RS1256819927 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Nonpapillary renal cell carcinoma
RS1256848235 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1256856876 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS1256865383 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1256882753 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS12568913 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS1256894448 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
« Prev 1 ... 316 317 318 319 320 321 322 ... 4509 Next »

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

Get Started Free →