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
RS1569498896 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569499010 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, COL4A5-related disorder
RS1569499015 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569499064 COL4A5 Health Risk Pathogenic —
RS1569499310 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS1569499366 GATA1 Health Risk Pathogenic GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS1569504056 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569504068 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569504072 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS1569504092 COL4A5 Health Risk Pathogenic —
RS1569505374 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569505525 COL4A5 Health Risk Likely pathogenic —
RS1569505604 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569505613 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569505758 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569505771 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, COL4A5-related disorder
RS1569505812 COL4A5 Health Risk Pathogenic —
RS1569507398 COL4A5 Health Risk Likely pathogenic —
RS1569507511 SLC9A7 Health Risk Likely pathogenic SLC9A7-related neurodevelopmental disorder, Intellectual developmental disorder
RS1569507535 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569507550 COL4A5 Health Risk Likely pathogenic —
RS1569507848 STAG2 Health Risk Pathogenic Mullegama-Klein-Martinez syndrome, Holoprosencephaly 13
RS1569508169 COL4A5 Health Risk Likely pathogenic —
RS1569508360 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569508382 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS1569508899 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS1569508922 ALG13 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1569508998 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569509136 HUWE1 Health Risk Likely pathogenic Trigonocephaly-short stature-developmental delay syndrome, Intellectual disability
RS1569509210 COL4A5 Health Risk Pathogenic —
RS1569509234 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569509257 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569509307 COL4A5 Health Risk Likely pathogenic —
RS1569509333 COL4A5 Health Risk Likely pathogenic —
RS1569509371 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1569510978 STAG2 Health Risk Likely pathogenic STAG2-related disorder, STAG2-related disorder
RS1569511477 STAG2 Health Risk Likely pathogenic STAG2-related disorder, Mullegama-Klein-Martinez syndrome
RS1569511572 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1569512576 SBF1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1569512722 STAG2 Health Risk Pathogenic Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
RS1569512941 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS1569513017 ATRX Health Risk Pathogenic Global developmental delay, Alpha thalassemia-X-linked intellectual disability syndrome
RS1569513021 ATRX Health Risk Pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS1569513495 SBF1 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1569515457 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1569515486 DMD Health Risk Pathogenic —
RS1569515507 STAG2 Health Risk Likely pathogenic Mullegama-Klein-Martinez syndrome, STAG2-related disorder
RS1569515729 STAG2 Health Risk Likely pathogenic STAG2-related disorder, STAG2-related disorder
RS1569516166 DMD Health Risk Pathogenic —
RS1569517717 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS1569517943 COL6A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS1569518070 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1569518119 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1569518138 COL6A1 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS1569518481 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1569518677 COL6A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS1569518725 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1569518771 COL6A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS1569519030 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1569519109 COL6A1 Health Risk Pathogenic —
RS1569519202 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1569519211 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1569520709 STAG2 Health Risk Pathogenic Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
RS1569520797 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1569521573 SCO2 Health Risk Pathogenic —
RS1569523436 WDR45 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569523457 WDR45 Health Risk Pathogenic/Likely pathogenic —
RS1569523468 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1569523500 WDR45 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS1569523502 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1569523537 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1569523544 WDR45 Health Risk Pathogenic X-linked cerebral-cerebellar-coloboma syndrome syndrome, X-linked cerebral-cerebellar-coloboma syndrome syndrome
RS1569523562 WDR45 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1569523565 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1569523728 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1569525357 SLC9A6 Health Risk Likely pathogenic Christianson syndrome, Christianson syndrome
RS1569525894 SLC9A6 Health Risk Likely pathogenic —
RS1569526122 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS1569526156 DMD Health Risk Pathogenic —
RS1569526579 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569527111 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative syndrome, X-linked lymphoproliferative syndrome
RS1569528090 DMD Health Risk Pathogenic —
RS1569528101 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569528138 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569528833 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1569529545 MYL9 Health Risk Conflicting classifications of pathogenicity Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, Visceral myopathy 1
RS1569529565 FOXP3 Health Risk Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS1569529715 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS1569530432 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS1569530437 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS1569530588 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS1569531639 RP2 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1569533147 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569533321 ATRX Health Risk Likely pathogenic —
RS1569533871 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1569533965 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569534160 APOL1 Health Risk risk factor Focal segmental glomerulosclerosis 4, susceptibility to
RS1569534805 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1569535642 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1569536694 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
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