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
RS780623744 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, Congenital anomaly of kidney and urinary tract
RS780624117 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS780624187 CLPP Health Risk Likely pathogenic Perrault syndrome 3, Perrault syndrome 3
RS780624853 CEP290 Health Risk Pathogenic Joubert syndrome 5, Nephronophthisis
RS780624885 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS780625125 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS780625433 OCA2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Tyrosinase-positive oculocutaneous albinism
RS780625551 TRIP11 Health Risk Likely pathogenic Odontochondrodysplasia 1, Odontochondrodysplasia 1
RS780625785 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS780626099 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS780626687 DSP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS780626848 VPS33B Health Risk Pathogenic Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
RS780626863 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS780627045 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS780627434 CETP Health Risk Likely pathogenic Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS780627462 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS780628028 OCA2 Health Risk Likely pathogenic Oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS780628821 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS780629485 AP1S1 Health Risk Pathogenic —
RS780629996 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780631499 AGTPBP1 Health Risk Pathogenic AGTPBP1-related disorder, Neurodegeneration
RS780631772 CHST7 Health Risk Conflicting classifications of pathogenicity —
RS780634022 RASGRP2 Health Risk Conflicting classifications of pathogenicity —
RS780634117 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS780634258 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS780634456 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780638101 AGR2 Health Risk Likely pathogenic Respiratory infections, recurrent
RS780638384 SCARB2 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
RS780638665 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS780641666 EXOSC2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Clear cell carcinoma of kidney
RS780642467 YWHAG Health Risk Conflicting classifications of pathogenicity —
RS780642540 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS780642606 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS780642639 CTNND1 Health Risk Pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS780643002 DDX41 Health Risk Pathogenic/Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS780643623 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS780644697 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS780644969 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS780647908 ERCC4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group Q, Xeroderma pigmentosum
RS780648601 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Lafora disease
RS780649150 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS780650145 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780650245 SLC25A12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS780650903 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, Glycogen storage disease type X
RS780650959 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS780651466 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS780652067 ELP2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 58
RS780652469 UPF3B Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS780653613 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780654152 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS780654411 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS780654733 GRIN2A Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Landau-Kleffner syndrome
RS780655005 POU1F1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS780655708 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS780656204 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS780656298 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS780656375 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS780657110 PHYH Health Risk Pathogenic —
RS780657444 ADAMTS18 Health Risk Likely pathogenic —
RS780657629 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS780658670 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS780658812 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS780659194 IFT27 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 19
RS780660397 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780660669 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS780660984 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS780661245 CYP4V2 Health Risk Pathogenic —
RS780663139 POLR1C Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS780663863 BHLHA9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780664060 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype
RS780664266 ADGRV1 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS780664594 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS780664696 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS780665254 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS780666037 IFT140 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome
RS780666910 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS780666926 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Inborn genetic diseases
RS780667159 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 1
RS780667260 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS780667562 C8B Health Risk Pathogenic —
RS780667597 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, GPC3-related disorder
RS780667753 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS780668435 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS780672769 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS780673258 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS780673293 SCN9A Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS780673328 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780673487 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS780673583 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS780673811 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS780673867 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS780674083 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS780675610 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS780675808 GALK1;ITGB4 Health Risk Likely pathogenic Deficiency of galactokinase, Epidermolysis bullosa simplex 1C
RS780675990 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS780676515 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Charcot-Marie-Tooth disease axonal type 2O
RS780676796 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS780677692 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
RS780677866 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS780678661 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
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