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
RS780510026 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS780510141 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS780510608 ABCA7 Health Risk Likely pathogenic Alzheimer disease 9, Alzheimer disease 9
RS780512337 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS780512428 ABCD4 Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS780515178 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS780515850 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS780515921 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS780516159 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS780516910 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780516925 USP18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780517633 GLI2 Health Risk Conflicting classifications of pathogenicity See cases, Holoprosencephaly 9
RS780517670 CEP78 Health Risk Pathogenic —
RS780517804 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS780518184 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS780518999 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADCY5-related disorder
RS780519584 SLC2A1 Health Risk Likely pathogenic Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2
RS780519821 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS780519904 UROD Health Risk Conflicting classifications of pathogenicity Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS780520735 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS780521474 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS780521818 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS780521904 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS780522034 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS780522390 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS780523169 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, TBCD-related disorder
RS780523281 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS780523431 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS780523589 CDH23 Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Hereditary cancer
RS780523767 FLVCR2 Health Risk Pathogenic Fowler syndrome, Fowler syndrome
RS780523881 GLB1 Health Risk Likely pathogenic Inborn genetic diseases, GM1 gangliosidosis type 3
RS780524136 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780525233 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrullinemia, type II
RS780525490 POMGNT2 Health Risk Likely pathogenic —
RS780525946 CD36 Health Risk Pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS780526209 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS780526428 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS780527463 CANT1 Health Risk Likely pathogenic —
RS780527809 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS780528545 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS780528629 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS780528686 FBP1 Health Risk Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS780529277 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS780531933 GORAB Health Risk Pathogenic —
RS780532720 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS780532724 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS780533096 MIPEP Health Risk Likely pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS780533224 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS780534334 COG8 Health Risk Pathogenic/Likely pathogenic COG8-congenital disorder of glycosylation, COG8-related disorder
RS780534377 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS780534566 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS780535026 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS780535115 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS780535727 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS780536141 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780536554 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS780536842 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780537483 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS780537847 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, TRDN-related disorder
RS780538558 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 1, von Willebrand disease type 1
RS780538636 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS780538788 ERCC6 Health Risk Pathogenic Cockayne syndrome, Cockayne syndrome type 2
RS780539765 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS780539887 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS780540683 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS780540757 HYCC1 Health Risk Pathogenic/Likely pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS780542343 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS780542462 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS780544697 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS780545199 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS780545388 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS780546355 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS780546933 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS780547562 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780547790 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS780547994 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Intellectual disability
RS780548317 AP1B1 Health Risk Pathogenic Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
RS780548837 MADD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies
RS780551031 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS780551383 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780551883 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS780552029 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780552939 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS780554312 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS780554501 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS780554506 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, HNF1B-related disorder
RS780555196 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS780557421 PRODH Health Risk Pathogenic/Likely pathogenic Proline dehydrogenase deficiency, Schizophrenia 4
RS780557919 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype
RS780558004 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS780558929 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS780560264 ZNF462 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780560784 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS780560947 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS780563386 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS780563389 ADAMTS17 Health Risk Pathogenic/Likely pathogenic Weill-Marchesani 4 syndrome, recessive
RS780563614 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS780563835 TOE1 Health Risk Pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS78056473 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS780566155 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
« Prev 1 ... 3689 3690 3691 3692 3693 3694 3695 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →