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
RS2147283135 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy 7
RS2147283171 TNNI3 Health Risk Likely pathogenic Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 1FF
RS2147283343 CNKSR2 Health Risk Pathogenic Intellectual disability, X-linked
RS2147283349 LDLR Health Risk Likely pathogenic —
RS2147283407 CNKSR2 Health Risk Pathogenic —
RS2147284796 MORC2 Health Risk Pathogenic Developmental delay, impaired growth
RS2147285302 TNNI3 Health Risk Pathogenic Cardiomyopathy, familial restrictive
RS2147285332 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2147285611 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS2147285764 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2147286730 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2147286839 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS2147286859 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147287002 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Hypercholesterolemia
RS2147287035 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147287052 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147287083 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147287215 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147287353 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147287460 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2147287476 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147287553 PI4KA Health Risk Pathogenic Polymicrogyria, perisylvian
RS2147287565 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2147287579 LAMP2 Health Risk Pathogenic —
RS2147287624 LAMP2 Health Risk Pathogenic Primary dilated cardiomyopathy, Danon disease
RS2147287637 LAMP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2147287645 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2147287657 LAMP2 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS2147287662 LAMP2 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2147290510 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147290553 RPGR Health Risk Likely pathogenic RPGR-related retinopathy, RPGR-related retinopathy
RS2147291671 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2147291936 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS2147294800 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2147294814 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2147294820 LAMP2 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2147294924 LAMP2 Health Risk Likely pathogenic Danon disease, Danon disease
RS2147297973 DNAAF3 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 2, Primary ciliary dyskinesia
RS2147299107 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2147299274 MID1 Health Risk Pathogenic —
RS2147299486 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2147305526 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2147305615 GATA1 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2147305680 PCNT Health Risk Pathogenic —
RS2147305695 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2147305721 GATA1 Health Risk Pathogenic GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS2147305736 GATA1 Health Risk Pathogenic GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS2147306077 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2147307937 ARHGEF9 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147307979 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2147310210 CIC;PAFAH1B3 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS2147311724 DNAAF3 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2147313207 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS2147313671 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2147314874 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2147317628 AR Health Risk Likely pathogenic —
RS2147317782 AR Health Risk Pathogenic —
RS2147318231 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147318633 ARX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2147318663 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2147318790 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2147318823 ARX Health Risk Pathogenic Corpus callosum agenesis-abnormal genitalia syndrome, Corpus callosum agenesis-abnormal genitalia syndrome
RS2147320305 ARX Health Risk Pathogenic Intellectual disability, X-linked
RS2147320329 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS2147320332 ARX Health Risk Pathogenic X-linked spasticity-intellectual disability-epilepsy syndrome, X-linked spasticity-intellectual disability-epilepsy syndrome
RS2147320407 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS2147320576 ARX Health Risk Likely pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS2147320638 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2147320644 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2147320674 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS2147321167 AR Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2147321505 CUL4B Health Risk Pathogenic —
RS2147321510 CUL4B Health Risk Likely pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS2147321608 AR Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2147322042 ARX Health Risk Likely pathogenic Intellectual disability, X-linked
RS2147322083 AR Health Risk Likely pathogenic —
RS2147322621 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2147322941 AR Health Risk Pathogenic AR-related disorder, Androgen resistance syndrome
RS2147323184 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147323593 ARX Health Risk Pathogenic/Likely pathogenic Arachnoid cyst, Corpus callosum
RS2147323625 ARX Health Risk Pathogenic Corpus callosum agenesis-abnormal genitalia syndrome, Corpus callosum agenesis-abnormal genitalia syndrome
RS2147323888 FCHO1 Health Risk Pathogenic —
RS2147323943 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2147324110 ARX Health Risk Pathogenic Intellectual disability, X-linked
RS2147324181 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS2147324296 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2147324381 ARX Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked
RS2147324418 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS2147324428 CELSR1 Health Risk Pathogenic Lymphatic malformation 9, Lymphatic malformation 9
RS2147324956 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147325489 ARX Health Risk Pathogenic Partington syndrome, Partington syndrome
RS2147325502 ARX Health Risk Pathogenic Corpus callosum agenesis-abnormal genitalia syndrome, Corpus callosum agenesis-abnormal genitalia syndrome
RS2147330536 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Thyroid cancer
RS2147336391 ODAD1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2147336769 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2147337039 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2147340483 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147340518 DDX3X Health Risk Pathogenic —
RS2147340616 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2147341270 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
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