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
RS199682686 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS199682693 BAG3 Health Risk Likely pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS199682735 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS199682748 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, KIDINS220-related disorder
RS199682849 TCF3 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 8b, autosomal recessive
RS199682956 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS199682978 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199683014 SLC40A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hemochromatosis type 4
RS199683454 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS199683465 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, XIAP-related disorder
RS199683760 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199683808 RPE65 Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis 2
RS199683937 NDUFV1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS199684110 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199684560 TTN Health Risk Conflicting classifications of pathogenicity —
RS199684626 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA3-related disorder
RS199684766 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS199684837 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS199684961 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS199685020 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS199685140 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS199685739 KLF1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
RS199686420 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, IL12RB1-related disorder
RS199686580 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS199687168 TENM4 Health Risk Conflicting classifications of pathogenicity Tremor, hereditary essential
RS199687508 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199687628 OTOF Health Risk Conflicting classifications of pathogenicity —
RS199688124 CFI Health Risk Pathogenic/Likely pathogenic Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly
RS199688157 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS199688524 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS199688667 MTMR14 Health Risk Conflicting classifications of pathogenicity —
RS199688798 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS199688874 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS199688928 TNXB Health Risk Conflicting classifications of pathogenicity See cases, Ovarian serous cystadenocarcinoma
RS199689137 ABCG5;DYNC2LI1 Health Risk Pathogenic/Likely pathogenic Sitosterolemia, Sitosterolemia 2
RS199689138 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS199689193 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS199689484 GJB3 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
RS199689597 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS199689862 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS199689957 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS199690076 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder
RS199690309 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS199690569 HYDIN Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS199690643 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS199690770 DCAF12L2 Health Risk Conflicting classifications of pathogenicity —
RS199690954 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS199691275 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS199691436 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS199691556 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS199691576 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS199691594 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS199691702 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS199691910 NRL Health Risk Conflicting classifications of pathogenicity —
RS199692186 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Paroxysmal extreme pain disorder
RS199692345 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
RS199692416 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS199692678 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS199692759 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS199692947 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199693105 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS199693203 XPNPEP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis-like nephropathy 1, Inborn genetic diseases
RS199693307 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS199693693 LRP6 Health Risk Conflicting classifications of pathogenicity LRP6-related disorder, LRP6-related disorder
RS199693918 LARS2 Health Risk Conflicting classifications of pathogenicity —
RS199693962 SLC5A7 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS199694087 SLC4A1 Health Risk Likely pathogenic Hereditary spherocytosis type 4, Hemolytic anemia
RS199694315 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199694629 GLB1 Health Risk Likely pathogenic —
RS199694736 TNK2 Health Risk Conflicting classifications of pathogenicity —
RS199694744 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS199694815 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS199695001 CRB2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 9, CRB2-related disorder
RS199695154 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS199695976 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS199696322 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 10
RS199696414 COQ8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199696448 TCIRG1 Health Risk Conflicting classifications of pathogenicity —
RS199696688 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological
RS199696786 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS199696801 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, MYH14-related disorder
RS199696853 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Systemic lupus erythematosus
RS199696980 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS199697700 PISD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199697908 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS199698117 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, NTHL1-related disorder
RS199698357 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Spinocerebellar ataxia type 29
RS199698527 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS199699339 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS199699551 TSPEAR Health Risk Conflicting classifications of pathogenicity —
RS199699785 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS199700128 RTTN Health Risk Pathogenic —
RS199700362 KIZ Health Risk Pathogenic —
RS199700485 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS199700509 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS199700538 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS199700646 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS199700840 TBC1D24 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 86, Autosomal recessive nonsyndromic hearing loss 86
RS199700878 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199700938 ACBD5 Health Risk Conflicting classifications of pathogenicity ACBD5-related disorder, ACBD5-related disorder
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