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
RS397516452 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS397516454 TNNT2 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS397516455 TNNT2 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D
RS397516456 TNNT2 Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D
RS397516457 TNNT2 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D
RS397516459 TNNT2 Health Risk Pathogenic Cardiomyopathy, familial restrictive
RS397516461 TNNT2 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS397516463 TNNT2 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS397516464 TNNT2 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1D
RS397516465 TNNT2 Health Risk Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1D
RS397516466 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
RS397516470 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 2
RS397516471 TNNT2 Health Risk Pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1D
RS397516475 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS397516476 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS397516477 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
RS397516480 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1D
RS397516482 TNNT2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D
RS397516484 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D
RS397516490 TPM1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Paroxysmal familial ventricular fibrillation
RS397516496 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS397516497 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS397516501 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS397516502 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia
RS397516503 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS397516504 RYR2 Health Risk Likely pathogenic Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS397516506 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RS397516508 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1
RS397516510 RYR2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS397516514 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS397516523 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS397516524 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS397516533 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS397516539 RYR2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia, Cardiovascular phenotype
RS397516550 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS397516552 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS397516554 TRIOBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS397516562 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS397516563 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS397516571 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS397516572 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS397516573 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS397516593 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1DD
RS397516595 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516596 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516597 RBM20 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1DD
RS397516598 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Primary familial dilated cardiomyopathy
RS397516599 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516601 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516602 RBM20 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1DD
RS397516603 RBM20 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS397516607 RBM20 Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD
RS397516608 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1DD
RS397516610 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS397516616 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS397516618 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516621 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1DD
RS397516622 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516625 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS397516626 LRTOMT Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS397516628 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, MYH14-related disorder
RS397516629 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
RS397516633 PDZD7 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 57
RS397516635 PDZD7 Health Risk Conflicting classifications of pathogenicity PDZD7-related disorder, PDZD7-related disorder
RS397516636 PDZD7 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 57
RS397516640 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2
RS397516641 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2
RS397516643 CASQ2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia
RS397516645 CTF1 Health Risk Conflicting classifications of pathogenicity —
RS397516646 CTF1 Health Risk Conflicting classifications of pathogenicity —
RS397516654 EDA Health Risk Pathogenic/Likely pathogenic Hypodontia, Hypohidrotic X-linked ectodermal dysplasia
RS397516656 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516657 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516659 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis
RS397516660 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516661 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516662 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Anhidrotic ectodermal dysplasia
RS397516663 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516664 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516665 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis
RS397516666 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516667 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516668 EDA Health Risk Pathogenic/Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder
RS397516670 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516671 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516672 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder
RS397516675 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516676 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516677 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Anhidrotic ectodermal dysplasia
RS397516678 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516679 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis
RS397516681 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS397516682 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder
RS397516683 ACTA2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS397516685 ACTA2 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS397516686 CRYAB Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1II
RS397516690 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS397516691 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS397516692 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I
RS397516694 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Arrhythmogenic right ventricular cardiomyopathy
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