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
RS727503499 TNNI3 Health Risk Likely pathogenic Restrictive cardiomyopathy, Hypertrophic cardiomyopathy
RS727503500 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503503 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Restrictive cardiomyopathy
RS727503504 TNNI3 Health Risk Conflicting classifications of pathogenicity Restrictive cardiomyopathy, Hypertrophic cardiomyopathy
RS727503506 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727503507 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
RS727503512 TNNT2 Health Risk Pathogenic Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 2
RS727503513 TNNT2 Health Risk Pathogenic Restrictive cardiomyopathy, Hypertrophic cardiomyopathy 2
RS727503516 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS727503517 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503518 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503520 TPRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
RS727503528 TRIOBP Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS727503533 TTN Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS727503536 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727503537 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727503538 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503541 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503542 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS727503543 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS727503545 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503546 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727503547 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, 6 conditions
RS727503549 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS727503550 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727503551 TTN Health Risk Conflicting classifications of pathogenicity —
RS727503552 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727503557 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503559 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727503564 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503565 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727503567 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503571 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503573 TTN Health Risk Conflicting classifications of pathogenicity —
RS727503575 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503577 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS727503585 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503586 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS727503588 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503598 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503600 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503602 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727503603 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727503604 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503606 TTN Health Risk Conflicting classifications of pathogenicity —
RS727503607 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS727503615 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503622 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS727503623 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS727503628 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727503633 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Limb-girdle muscular dystrophy
RS727503634 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503635 TTN Health Risk Conflicting classifications of pathogenicity —
RS727503636 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503643 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS727503644 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503649 TTN Health Risk Conflicting classifications of pathogenicity —
RS727503652 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503655 TTN Health Risk Conflicting classifications of pathogenicity —
RS727503656 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727503657 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727503658 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS727503659 TTN Health Risk Conflicting classifications of pathogenicity See cases, Cardiovascular phenotype
RS727503660 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503661 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS727503673 TTN Health Risk Conflicting classifications of pathogenicity —
RS727503676 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS727503678 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727503679 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS727503681 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503682 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS727503683 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503686 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727503688 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727503693 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503697 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727503701 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, Cardiovascular phenotype
RS727503707 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727503708 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS727503710 USH1C Health Risk Conflicting classifications of pathogenicity —
RS727503712 USH1C Health Risk Conflicting classifications of pathogenicity —
RS727503715 USH2A Health Risk Pathogenic Rare genetic deafness, Retinal dystrophy
RS727503723 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinal dystrophy
RS727503725 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS727503731 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa
RS727503732 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS727503735 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS727503736 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS727503738 VCL Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727503743 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS727503744 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS727503745 WFS1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Wolfram syndrome 1
RS727503746 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS727503747 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram-like syndrome, Cataract 41
RS727503748 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS727503752 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS727503753 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Inborn genetic diseases
RS727503755 CCN6 Health Risk Pathogenic/Likely pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS727503759 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS727503760 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
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