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
RS2512577738 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS2512577776 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS2512577871 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS2512577883 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS2512579074 ADAMTS10 Health Risk Pathogenic —
RS2512579975 BRD4 Health Risk Likely pathogenic See cases, Cornelia de Lange syndrome 6
RS2512580369 BRD4 Health Risk Pathogenic Cornelia de Lange syndrome 6, Cornelia de Lange syndrome 6
RS2512581936 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS2512582393 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS2512591789 ADAMTS10 Health Risk Pathogenic —
RS2512592873 ADAMTS10 Health Risk Pathogenic —
RS2512594998 ADAMTS10 Health Risk Likely pathogenic —
RS2512600587 KLF2 Health Risk Likely pathogenic, low penetrance Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS2512602579 RTTN Health Risk Pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS2512603336 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2512608847 ADAMTS10 Health Risk Pathogenic —
RS2512609711 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2512609739 NOTCH3 Health Risk Pathogenic/Likely pathogenic Lateral meningocele syndrome, Lateral meningocele syndrome
RS2512610959 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512612604 TNPO2 Health Risk Likely pathogenic —
RS2512618280 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512622286 ADAMTS10 Health Risk Likely pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS2512623267 RTTN Health Risk Likely pathogenic —
RS2512623887 NOTCH3 Health Risk Likely pathogenic NOTCH3-related disorder, NOTCH3-related disorder
RS2512627196 CACNA1A Health Risk Likely pathogenic Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS2512627299 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2512636728 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS2512636980 NOTCH3 Health Risk Pathogenic —
RS2512637222 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS2512637780 NOTCH3 Health Risk Pathogenic —
RS2512639575 ADAMTS10 Health Risk Likely pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS2512640171 ADAMTS10 Health Risk Pathogenic —
RS2512644040 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS2512644126 CACNA1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2512644131 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512645497 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512645777 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS2512645913 BPTF Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2512646581 NOTCH3 Health Risk Pathogenic —
RS2512646880 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2512649059 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2512649193 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2512649411 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS2512652630 TNPO2 Health Risk Likely pathogenic TNPO2-related disorder, TNPO2-related disorder
RS2512657457 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2512657590 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2512657786 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2512658095 NOTCH3 Health Risk Pathogenic/Likely pathogenic —
RS2512659319 NOTCH3 Health Risk Pathogenic —
RS2512659535 NOTCH3 Health Risk Likely pathogenic —
RS2512659895 NOTCH3 Health Risk Likely pathogenic —
RS2512661013 NOTCH3 Health Risk Pathogenic —
RS2512661018 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2512661152 NOTCH3 Health Risk Pathogenic —
RS2512661234 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS2512661812 NOTCH3 Health Risk Likely pathogenic —
RS2512663904 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2512664094 PET100 Health Risk Likely pathogenic —
RS2512664250 NOTCH3 Health Risk Likely pathogenic —
RS2512664352 TCF4 Health Risk Likely pathogenic Corneal dystrophy, Fuchs endothelial
RS2512665006 NOTCH3 Health Risk Pathogenic —
RS2512665125 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS2512665397 NOTCH3 Health Risk Pathogenic —
RS2512665717 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2512666442 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS2512666940 TCF4 Health Risk Pathogenic Corneal dystrophy, Fuchs endothelial
RS2512666971 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2512672832 NOTCH3 Health Risk Pathogenic —
RS2512683140 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512684973 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512689549 TPM4 Health Risk Pathogenic Bleeding disorder, platelet-type
RS2512689722 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512691532 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512691552 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512691573 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512691704 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512691738 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512692673 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512693319 GPX4 Health Risk Likely pathogenic Spondylometaphyseal dysplasia, Sedaghatian type
RS2512695145 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512695846 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512697088 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512697589 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512698714 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512699538 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2512699658 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512700267 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512700288 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512700296 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512700352 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512700357 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512700824 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512700995 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512703983 BRD4 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2512704609 BRD4 Health Risk Pathogenic —
RS2512705295 TNPO2 Health Risk Likely pathogenic Intellectual developmental disorder with hypotonia, impaired speech
RS2512705615 TNPO2 Health Risk Likely pathogenic Intellectual developmental disorder with hypotonia, impaired speech
RS2512705724 BRD4 Health Risk Likely pathogenic Cornelia de Lange syndrome 6, Cornelia de Lange syndrome 6
RS2512705792 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512706058 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
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