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
RS2494271127 SOX6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2494271432 PIK3C2A Health Risk Pathogenic —
RS2494286656 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS2494291485 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, BETA-PLUS-THALASSEMIA
RS2494292030 HBB Health Risk Pathogenic Dominant beta-thalassemia, Dominant beta-thalassemia
RS2494292050 HBB Health Risk Likely pathogenic —
RS2494292407 HBB Health Risk Pathogenic Hemoglobinopathy, Hemoglobinopathy
RS2494292446 HBB Health Risk Pathogenic —
RS2494295133 HBB Health Risk Conflicting classifications of pathogenicity Malaria, susceptibility to
RS2494295306 HBB Health Risk Likely pathogenic —
RS2494296091 HBB Health Risk Pathogenic Hemoglobinopathy, Hemoglobinopathy
RS2494296171 HBB Health Risk Likely pathogenic —
RS2494296194 HBB Health Risk Likely pathogenic —
RS2494297067 HBB Health Risk Pathogenic —
RS2494297176 HBB Health Risk Pathogenic Hemoglobinopathy, Hemoglobinopathy
RS2494297181 HBB Health Risk Pathogenic Hemoglobinopathy, Hemoglobinopathy
RS2494305988 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS2494306436 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2494318394 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2494319408 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS2494319481 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2494324095 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2494324455 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2494325585 KCNQ1 Health Risk Likely pathogenic Atrial fibrillation, familial
RS2494328715 ENTPD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2494334628 HBG2 Health Risk Pathogenic Cyanosis, transient neonatal
RS2494336043 HPS5 Health Risk Pathogenic —
RS2494337734 CDH23 Health Risk Pathogenic —
RS2494339264 CDH23 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2494343833 CDH23 Health Risk Pathogenic —
RS2494344104 CDH23 Health Risk Pathogenic —
RS2494344217 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494344629 CDH23 Health Risk Pathogenic —
RS2494352625 SYNE1 Health Risk Likely pathogenic —
RS2494356918 CDH23 Health Risk Pathogenic —
RS2494357398 CDH23 Health Risk Likely pathogenic —
RS2494357401 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494359243 CDH23 Health Risk Likely pathogenic —
RS2494359300 CDH23 Health Risk Pathogenic —
RS2494361871 CDH23 Health Risk Pathogenic —
RS2494362254 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494362658 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Wilms tumor 1
RS2494363622 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS2494369582 CDH23 Health Risk Likely pathogenic —
RS2494369768 MPDZ Health Risk Pathogenic —
RS2494369791 CDH23 Health Risk Pathogenic —
RS2494369913 CDH23 Health Risk Pathogenic —
RS2494370978 WT1 Health Risk Likely pathogenic Nephrotic syndrome, type 4
RS2494374376 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2494374535 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494377215 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494377719 CDH23 Health Risk Pathogenic —
RS2494378027 CDH23 Health Risk Pathogenic —
RS2494378255 DEAF1 Health Risk Likely pathogenic —
RS2494378551 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS2494378579 DEAF1 Health Risk Likely pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS2494378840 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS2494379304 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS2494379970 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494379988 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494380076 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494380120 CDKN1C Health Risk Likely pathogenic CDKN1C-related disorder, CDKN1C-related disorder
RS2494380150 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494380217 CDKN1C Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494380322 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494383793 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494383846 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494384051 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494384315 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS2494384452 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494384538 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494384555 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494384846 CDH23 Health Risk Pathogenic —
RS2494384859 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494385188 CDH23 Health Risk Pathogenic —
RS2494385326 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494385418 CDH23 Health Risk Pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS2494385585 CDH23 Health Risk Pathogenic —
RS2494385765 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2494385784 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494385885 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494385919 CDH23 Health Risk Likely pathogenic —
RS2494386440 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS2494386494 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494386556 ANO5 Health Risk Likely pathogenic Miyoshi muscular dystrophy 3, Miyoshi muscular dystrophy 3
RS2494386964 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494387330 CDKN1C Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494388249 CDKN1C Health Risk Pathogenic/Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494388585 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494388964 CDKN1C Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494389055 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494389104 CDKN1C Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494389952 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494389957 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494390803 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494390854 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494390913 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494391145 CDKN1C Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2494395195 CDH23 Health Risk Pathogenic —
RS2494395295 CDH23 Health Risk Pathogenic —
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