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
RS1553159979 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1553160126 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS1553160504 SLC6A9 Health Risk Likely pathogenic —
RS1553162317 MMACHC Health Risk Pathogenic METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
RS1553162601 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1553162663 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1553162786 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162788 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162821 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162857 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162868 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162872 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1553162873 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1553162901 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162910 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162918 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162923 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162931 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162934 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162937 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553162943 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1553163077 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1553163123 DOCK7 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553163206 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1553163254 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1553163335 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1553163360 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1553163534 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1553163590 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1553163721 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1553163920 POMGNT1 Health Risk Pathogenic —
RS1553164129 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1553165199 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS1553166135 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1553166147 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1553166337 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1553166499 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1553167415 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1553167430 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1553167474 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1553167479 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1553167616 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553167851 NFIA Health Risk Pathogenic —
RS1553167863 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, PPT1-related disorder
RS1553168601 KCNQ4 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1553168726 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Immunodeficiency 14
RS1553168850 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169106 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169598 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169629 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169666 CPT2 Health Risk Pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169716 CPT2 Health Risk Pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169720 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169726 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169771 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169787 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169799 CPT2 Health Risk Pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169813 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169973 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553169975 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1553170005 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553170006 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553170029 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553170033 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1553170279 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS1553171141 MTOR Health Risk Pathogenic Inborn genetic diseases, CEBALID syndrome
RS1553172687 GRHL3 Health Risk Pathogenic Van der Woude syndrome 2, Van der Woude syndrome 2
RS1553172962 DVL1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1553173356 DVL1 Health Risk Likely pathogenic —
RS1553173367 DVL1 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1553173368 DVL1 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1553173372 DVL1 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1553173393 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1553173420 DVL1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1553173425 DVL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553174500 PLEKHG5 Health Risk Likely pathogenic Glioma susceptibility 1, Glioma susceptibility 1
RS1553174566 PLEKHG5 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS1553174650 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS1553174844 LEPR Health Risk Pathogenic Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency
RS1553175089 SLC9A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553175760 PLEKHG5 Health Risk Pathogenic Spinal muscular atrophy, facioscapulohumeral type
RS1553176765 PRDM16 Health Risk Likely pathogenic —
RS1553176976 SDHB Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS1553176979 SDHB Health Risk Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1553177267 SDHB Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1553177285 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1553177290 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS1553177292 SDHB Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS1553177424 SDHB Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS1553177436 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1553177440 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1553177666 SDHB Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1553177667 SDHB Health Risk Likely pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1553177669 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1553177672 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1553177676 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1553177677 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1553177678 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1553177679 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1553177687 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
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