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
RS727504425 MYL2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
RS727504426 CBL Health Risk Likely pathogenic Noonan syndrome, Juvenile myelomonocytic leukemia
RS727504430 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS727504431 TAFAZZIN Health Risk Likely pathogenic Primary dilated cardiomyopathy, 3-Methylglutaconic aciduria type 2
RS727504432 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS727504433 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727504434 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727504439 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504440 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504441 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504443 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Primary dilated cardiomyopathy
RS727504448 DES Health Risk Conflicting classifications of pathogenicity Neuromuscular disease, Primary dilated cardiomyopathy
RS727504452 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727504454 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS727504455 CDH23 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Retinal dystrophy
RS727504456 SLC26A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727504457 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma
RS727504458 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Otospondylomegaepiphyseal dysplasia
RS727504460 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS727504461 TJP2 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial 1
RS727504465 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504466 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiomyopathy
RS727504474 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504476 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504479 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504482 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504483 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504488 TNNT2 Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS727504494 EYA1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727504498 DSP Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727504499 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727504501 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS727504504 CBL Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Inborn genetic diseases
RS727504509 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS727504515 TTN Health Risk Conflicting classifications of pathogenicity —
RS727504520 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504528 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS727504531 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727504535 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727504537 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS727504540 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504541 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS727504543 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS727504544 LOXHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727504548 MYO6 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS727504550 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504551 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS727504554 TMC1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727504557 LAMP2 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727504558 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504560 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727504561 ADGRV1 Health Risk Pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS727504562 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS727504564 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS727504567 MYO6 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Rare genetic deafness
RS727504569 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS727504570 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS727504577 ESRRB Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS727504579 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504580 SGCD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS727504581 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727504582 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS727504583 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS727504584 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS727504586 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS727504588 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504589 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504590 ACTN2 Health Risk Conflicting classifications of pathogenicity Syncope, Hypertrophic cardiomyopathy
RS727504591 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS727504595 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1JJ
RS727504597 LAMP2 Health Risk Pathogenic Primary dilated cardiomyopathy, Danon disease
RS727504599 OTOA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder
RS727504600 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS727504605 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS727504607 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS727504608 USH2A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727504609 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504614 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Hereditary cancer-predisposing syndrome
RS727504627 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS727504630 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS727504635 KCNQ4 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727504636 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 4
RS727504639 OTOF Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727504640 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, RASopathy
RS727504641 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS727504642 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS727504644 ADGRV1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Febrile seizures
RS727504645 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS727504646 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504648 LAMP2 Health Risk Pathogenic Danon disease, Cardiovascular phenotype
RS727504649 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS727504651 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS727504654 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS727504655 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727504657 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS727504660 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727504662 KRAS Health Risk Pathogenic Noonan syndrome, RASopathy
RS727504666 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS727504669 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS727504672 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
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