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
RS778158900 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS778159802 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Thyroid cancer
RS778159924 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS778160013 SHOX Health Risk Conflicting classifications of pathogenicity SHOX-related short stature, SHOX-related short stature
RS778160773 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS778161572 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS778161679 COL4A4 Health Risk Likely pathogenic COL4A4-related disorder, Hematuria
RS778161908 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS778162176 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS778162209 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS778163048 PCNT Health Risk Likely pathogenic Inborn genetic diseases, PCNT-related disorder
RS778163447 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS778164774 ATP5F1D Health Risk Conflicting classifications of pathogenicity —
RS778165592 HARS2 Health Risk Pathogenic —
RS778165989 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS778169043 VAC14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778169806 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS778170244 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS778170676 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Inborn genetic diseases
RS778171066 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS778171516 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS778171762 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS778171763 CACNG7 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS778171847 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS778172294 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS778172350 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS778172371 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS778172428 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS778172821 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS778173280 NDUFA10 Health Risk Conflicting classifications of pathogenicity —
RS778173860 CDAN1 Health Risk Likely pathogenic Anemia, congenital dyserythropoietic
RS778173916 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778174614 KRT16 Health Risk Conflicting classifications of pathogenicity —
RS778174655 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS778174763 RXYLT1 Health Risk Likely pathogenic —
RS778175625 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Hemorrhage
RS778175819 SMARCA4 Health Risk Likely pathogenic SMARCA4-related BAFopathy, Intellectual disability
RS778176181 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS778176467 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS778176530 CHRNG Health Risk Pathogenic Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS778176957 FKBP14 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Ehlers-Danlos syndrome
RS778177582 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS778178248 ADAMTSL2 Health Risk Likely pathogenic Lethal short-limb skeletal dysplasia, Al Gazali type
RS778178479 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS778178483 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS778178659 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS778178956 DSP Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS778179583 FANCA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778180128 CYBC1 Health Risk Pathogenic Granulomatous disease, chronic
RS778180589 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS778181495 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS778181928 F13A1 Health Risk Likely pathogenic Factor XIII, A subunit
RS778181932 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS778183317 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS778185523 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778185705 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS778185997 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS778186545 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS778186580 SHOX Health Risk Conflicting classifications of pathogenicity —
RS778186722 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778187343 TERT Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Pulmonary fibrosis and/or bone marrow failure
RS778187974 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS778188247 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS778188253 HSD3B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS778188580 ADGRV1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS77818876 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS778189876 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS778190944 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Hereditary cancer-predisposing syndrome
RS778191765 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS778191984 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS778193621 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778194666 PISD Health Risk Pathogenic —
RS778195664 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS778195760 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS778196366 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS778196484 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS778198600 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS778199728 NR2F1 Health Risk Pathogenic —
RS778200334 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778201387 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS778201827 POLRMT Health Risk Pathogenic Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS778201974 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS778202993 CYP1B1 Health Risk Pathogenic/Likely pathogenic Congenital glaucoma, Anterior segment dysgenesis 6
RS778203309 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS778203609 ACAD8 Health Risk Likely pathogenic —
RS778203652 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS77820367 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS778204574 CDH23 Health Risk Conflicting classifications of pathogenicity CDH23-related disorder, Autosomal recessive nonsyndromic hearing loss 12
RS778204627 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778205243 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS778205727 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS778206304 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS778206438 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS778207102 SDHA Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS778207341 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS778207634 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS778207666 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS778208850 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS778209371 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS778209649 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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