SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS797045485 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045486 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045487 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045488 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045489 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045490 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045491 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045492 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Kabuki-like syndrome
RS797045494 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045495 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045496 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045498 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045499 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045500 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045502 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS797045504 CTNNB1 Health Risk Conflicting classifications of pathogenicity —
RS797045506 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria
RS797045507 D2HGDH Health Risk Likely pathogenic D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria
RS797045510 DCX Health Risk Pathogenic Abnormal cortical gyration, Abnormal cortical gyration
RS797045512 DCX Health Risk Pathogenic Abnormal cortical gyration, Lissencephaly type 1 due to doublecortin gene mutation
RS797045513 DCX Health Risk Likely pathogenic Abnormal cortical gyration, Abnormal cortical gyration
RS797045514 DCX Health Risk Pathogenic Abnormal cortical gyration, Abnormal cortical gyration
RS797045515 DCX Health Risk Pathogenic Abnormal cortical gyration, Abnormal cortical gyration
RS797045518 DCX Health Risk Pathogenic Abnormal cortical gyration, Abnormal cortical gyration
RS797045519 DCX Health Risk Pathogenic Abnormal cortical gyration, Abnormal cortical gyration
RS797045520 DCX Health Risk Pathogenic Abnormal cortical gyration, Abnormal cortical gyration
RS797045521 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS797045525 DLG3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DLG3-related disorder
RS797045526 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS797045528 DOK7 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS797045529 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS797045532 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS797045533 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS797045534 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS797045535 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Intellectual disability
RS797045537 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS797045539 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS797045540 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS797045542 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS797045543 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS797045544 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS797045545 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS797045546 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS797045547 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS797045548 ECEL1 Health Risk Conflicting classifications of pathogenicity —
RS797045550 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS797045551 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS797045552 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS797045554 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS797045555 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS797045556 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS797045558 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS797045559 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS797045560 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Menke-Hennekam syndrome 2
RS797045562 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS797045565 ESCO2 Health Risk Pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS797045566 ESCO2 Health Risk Pathogenic/Likely pathogenic Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
RS797045567 EXOSC3 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS797045568 EZH2 Health Risk Pathogenic/Likely pathogenic Weaver syndrome, Weaver syndrome
RS797045569 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS797045570 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS797045576 FKRP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS797045577 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS797045579 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS797045581 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS797045583 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS797045584 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS797045586 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases
RS797045588 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS797045591 GATA2 Health Risk Likely pathogenic Leukemia, acute myeloid
RS797045592 GATA2 Health Risk Conflicting classifications of pathogenicity Leukemia, acute myeloid
RS797045593 GATA6 Health Risk Pathogenic Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS797045594 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS797045595 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS797045596 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS797045597 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS797045599 GNAO1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 17
RS797045600 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS797045602 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS797045605 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS797045608 GRIN2B Health Risk Conflicting classifications of pathogenicity —
RS797045610 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS797045611 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS797045612 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS797045613 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS797045623 INS Health Risk Pathogenic/Likely risk allele Permanent neonatal diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS797045624 INSR Health Risk Pathogenic Hyperinsulinism due to INSR deficiency, Hyperinsulinism due to INSR deficiency
RS797045625 INSR Health Risk Conflicting classifications of pathogenicity —
RS797045629 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS797045630 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS797045634 KCND3 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS797045637 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS797045638 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS797045642 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS797045643 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS797045644 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS797045646 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS797045649 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS797045650 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS797045651 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
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