SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886037649 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS886037650 DICER1 Health Risk Pathogenic Rhabdomyosarcoma, embryonal
RS886037651 DICER1 Health Risk Pathogenic Rhabdomyosarcoma, embryonal
RS886037653 SPAG1 Health Risk Pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5, Primary ciliary dyskinesia 28
RS886037654 GMPPA Health Risk Pathogenic Alacrima, achalasia
RS886037655 LBR Health Risk Pathogenic Greenberg dysplasia, Greenberg dysplasia
RS886037656 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS886037657 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS886037658 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS886037659 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Senior-Loken syndrome 6
RS886037661 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS886037662 ERCC6L2 Health Risk Pathogenic Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS886037663 TUBB2A Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 5, Congenital cerebellar hypoplasia
RS886037664 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Neurodevelopmental delay
RS886037665 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS886037666 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS886037667 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037668 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037669 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037670 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037671 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037672 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037673 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037674 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037675 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037676 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037677 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037678 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037679 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037680 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037681 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037682 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037683 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037684 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037685 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037687 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037688 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037689 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037690 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037691 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037692 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037693 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037694 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037695 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037696 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037697 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037698 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037699 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037700 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037701 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037702 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037703 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037704 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037705 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037706 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037707 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037708 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037709 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037710 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037711 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037712 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037713 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037714 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037715 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037716 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037717 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037718 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037719 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037720 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037721 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Rhabdomyosarcoma
RS886037722 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037723 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037724 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037725 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037726 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037727 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037728 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Pleuropulmonary blastoma
RS886037729 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037730 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037731 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037732 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS886037733 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS886037734 GTPBP3 Health Risk Pathogenic Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS886037735 GTPBP3 Health Risk Pathogenic Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS886037736 GTPBP3 Health Risk Pathogenic Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS886037737 CYCS Health Risk Pathogenic Thrombocytopenia 4, Thrombocytopenia 4
RS886037738 TSEN2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia
RS886037739 TSEN2 Health Risk Pathogenic Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B
RS886037740 TSEN54 Health Risk Pathogenic Pontocerebellar hypoplasia type 5, Pontocerebellar hypoplasia type 5
RS886037741 COL25A1 Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS886037742 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS886037744 PNKP Health Risk Pathogenic Ataxia - oculomotor apraxia type 4, Ataxia - oculomotor apraxia type 4
RS886037746 TTC7A Health Risk Pathogenic Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1
RS886037747 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS886037748 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS886037749 TNFRSF11A Health Risk Pathogenic Familial expansile osteolysis, Paget disease of bone 2
RS886037750 INSR Health Risk Pathogenic Rabson-Mendenhall syndrome, Rabson-Mendenhall syndrome
RS886037753 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS886037754 PAX2 Health Risk Pathogenic —
RS886037755 PAX2 Health Risk Pathogenic —
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