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
RS755329877 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Myofibrillar myopathy 4
RS755330496 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS755330584 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS755330618 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS755330939 ITGB6 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
RS755330966 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS755331383 NEFH Health Risk Conflicting classifications of pathogenicity NEFH-related disorder, Inborn genetic diseases
RS755333803 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS755334490 CD3G Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS755336812 ST14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755337511 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS755338566 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755338726 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS755338751 RAB27A Health Risk Pathogenic/Likely pathogenic Griscelli syndrome type 2, Autoinflammatory syndrome
RS755338872 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS755338885 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS755339268 SLC2A10 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arterial tortuosity syndrome
RS755339616 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755340450 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS755340663 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS755340747 PNP Health Risk Pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS755341613 PGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 42
RS755342217 GLMN Health Risk Conflicting classifications of pathogenicity Glomuvenous malformation, Inborn genetic diseases
RS755343529 ZIC3 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS755343536 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS755344399 TUBGCP6 Health Risk Pathogenic —
RS755344801 AMPD2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9
RS755345693 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS755345820 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS755346486 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755346624 ACAD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency
RS755348328 ABCA4 Health Risk Pathogenic —
RS755348435 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS755348833 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS755348845 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS755348996 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, See cases
RS755349360 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS755350165 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS755350285 ASPM Health Risk Conflicting classifications of pathogenicity ASPM-related disorder, ASPM-related disorder
RS755350858 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS755350912 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Clear cell carcinoma of kidney
RS755352246 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Myosclerosis
RS755352904 APOC2 Health Risk Pathogenic —
RS755353918 P3H2 Health Risk Pathogenic —
RS755353984 KANSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Koolen-de Vries syndrome
RS755356387 HCN4 Health Risk Pathogenic Brugada syndrome 8, Cardiovascular phenotype
RS755356541 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS755357184 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS755358223 SCN8A Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Early-infantile DEE
RS755358226 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS755358293 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, DNA ligase IV deficiency
RS755359126 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS755359802 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS755361015 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group G, Fanconi anemia
RS755361442 SLC27A4 Health Risk Pathogenic —
RS755363281 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS755363322 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS755363896 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS755364026 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755364562 IRF9 Health Risk Conflicting classifications of pathogenicity —
RS755365744 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755366540 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS755367118 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS755367503 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS755369095 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS755370356 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS755370981 TBC1D24 Health Risk Pathogenic/Likely pathogenic DOORS syndrome, Developmental and epileptic encephalopathy
RS755371076 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS755371528 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS755371824 TBL1XR1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Pierpont syndrome
RS755371825 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, Monogenic hearing loss
RS755373707 ARSL Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Chondrodysplasia punctata
RS755373718 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS755374221 COMP Health Risk Conflicting classifications of pathogenicity —
RS755375197 PCARE Health Risk Pathogenic —
RS755375348 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS755375448 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS755375493 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS755377592 F7 Health Risk Likely pathogenic Factor VII deficiency, F7-related disorder
RS755377651 FOXE3 Health Risk Conflicting classifications of pathogenicity Congenital primary aphakia, Anterior segment dysgenesis
RS755378169 PRODH Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS755378266 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS755378627 PDE4D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755379319 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS755380383 LARP7 Health Risk Pathogenic —
RS755380517 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS755380873 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS755381180 EVC Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Curry-Hall syndrome
RS755381283 HERC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Macrocephaly
RS755382829 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, COL6A3-related disorder
RS755385132 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS755385158 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS755388186 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS755388971 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS755389218 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS755389753 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS755390093 SPG21 Health Risk Likely pathogenic Mast syndrome, Hereditary spastic paraplegia
RS755390277 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS755390933 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS755391236 ABCA12 Health Risk Pathogenic ABCA12-related disorder, ABCA12-related disorder
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