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
RS606231410 COL11A2 Health Risk Pathogenic Nonsyndromic Deafness, Autosomal recessive nonsyndromic hearing loss 53
RS606231411 POU1F1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS606231412 GHRHR Health Risk Likely pathogenic Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS606231413 GHRHR Health Risk Likely pathogenic Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS606231416 BRF1 Health Risk Pathogenic/Likely pathogenic Cerebellar-facial-dental syndrome, Inborn genetic diseases
RS606231417 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inborn genetic diseases
RS606231418 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS606231419 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS606231420 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS606231421 CTLA4 Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS606231422 CTLA4 Health Risk Pathogenic/Likely pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS606231423 RDH11 Health Risk Pathogenic Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
RS606231424 RDH11 Health Risk Pathogenic Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
RS606231425 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS606231426 UQCC3 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 9, Mitochondrial complex III deficiency nuclear type 9
RS606231430 ATP1A3 Health Risk Likely pathogenic Alternating hemiplegia of childhood, Alternating hemiplegia of childhood
RS606231432 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS606231434 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS606231435 ATP1A3 Health Risk Pathogenic Dystonia 12, Alternating hemiplegia of childhood 2
RS606231436 ATP1A3 Health Risk Likely pathogenic —
RS606231437 ATP1A3 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12
RS606231439 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Developmental and epileptic encephalopathy 99
RS606231440 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS606231441 ATP1A3 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12
RS606231442 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS606231443 ATP1A3 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Developmental and epileptic encephalopathy 99
RS606231444 ATP1A3 Health Risk Likely pathogenic Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS606231447 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS606231450 BRF1 Health Risk Likely pathogenic Cerebellar-facial-dental syndrome, See cases
RS606231451 TMEM240 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21
RS606231452 TMEM240 Health Risk Pathogenic Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21
RS606231454 TMEM240 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21
RS606231455 TMEM240 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 21, Neurodevelopmental disorder
RS606231456 NDST1 Health Risk Pathogenic Intellectual disability, autosomal recessive 46
RS606231457 NDST1 Health Risk Pathogenic Intellectual disability, autosomal recessive 46
RS606231458 NDST1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 46
RS606231459 NDST1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 46
RS606231460 NLRC4 Health Risk Pathogenic Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS606231461 DMXL2 Health Risk Conflicting classifications of pathogenicity Polyendocrine-polyneuropathy syndrome, See cases
RS606231462 WDR72 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS606231464 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS606231465 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS606231466 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS606231467 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS606231468 GABRB2 Health Risk Pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS606231469 TNNI3K Health Risk Likely pathogenic Atrial conduction disease, Atrial conduction disease
RS606231470 COL9A3 Health Risk Pathogenic Stickler syndrome, type 6
RS606231471 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS606231472 RMND1 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS606231473 CSF3R Health Risk Pathogenic/Likely pathogenic Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS606231474 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS606231475 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS60627726 KRT6B Health Risk Pathogenic Pachyonychia congenita 4, Pachyonychia congenita 4
RS6063 FGG Health Risk Conflicting classifications of pathogenicity Fibrinogen Milano XII, digenic
RS60637558 ABCC8 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Permanent neonatal diabetes mellitus
RS60652225 LMNA Health Risk Pathogenic Hutchinson-Gilford progeria syndrome, childhood-onset
RS60662302 LMNA Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Cardiovascular phenotype
RS60664170 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS60682848 LMNA Health Risk Pathogenic Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 2
RS60687604 KRT86 Health Risk Pathogenic Monilethrix, Monilethrix-1
RS6068812 CYP24A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS60695352 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS60715293 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS60720877 KRT5 Health Risk Likely pathogenic KRT5-related disorder, KRT5-related disorder
RS60723330 KRT16 Health Risk Pathogenic Palmoplantar keratoderma, nonepidermolytic
RS60725382 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1D, generalized
RS60734921 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS60743141 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5
RS60791294 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS60794673 PMS2 Health Risk Conflicting classifications of pathogenicity Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome
RS60794845 DES Health Risk Likely pathogenic —
RS607969 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS60798368 DES Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS60809236 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS60824529 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS60835976 RASA1 Health Risk Likely pathogenic Cardiovascular phenotype, Basal cell carcinoma
RS60864230 LMNA Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
RS6087 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Thrombocythemia 2
RS60872029 LMNA Health Risk Pathogenic Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2
RS60890628 LMNA Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Mandibuloacral dysplasia with type A lipodystrophy
RS60891833 MECR Health Risk Conflicting classifications of pathogenicity MECR-related disorder, Inborn genetic diseases
RS6089898 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS6089914 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS60910145 APOL1 Health Risk Conflicting classifications of pathogenicity; risk factor Hyalinosis, Segmental Glomerular
RS60934003 LMNA Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS6094438 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS60944949 KRT16 Health Risk Pathogenic Pachyonychia congenita 1, Pachyonychia congenita 1
RS60975032 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS60986317 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS60992550 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS61018135 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS61027685 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS61046466 LMNA Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS61060395 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS61064130 LMNA Health Risk Pathogenic Hutchinson-Gilford syndrome, Hutchinson-Gilford syndrome
RS61065977 SCN4B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 10
RS61091894 KRT86 Health Risk Pathogenic Monilethrix, Monilethrix
RS61091998 GLI3 Health Risk Conflicting classifications of pathogenicity Polydactyly, Greig cephalopolysyndactyly syndrome
RS61094188 LMNA Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Emery-Dreifuss muscular dystrophy
RS61100157 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
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