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
RS727503236 MYH6 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14
RS727503240 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy
RS727503242 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS727503245 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727503246 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503249 MYH7 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction, Hypertrophic cardiomyopathy
RS727503252 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503253 MYH7 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1S
RS727503258 MYH7 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS727503260 MYH7 Health Risk Pathogenic Restrictive cardiomyopathy, Hypertrophic cardiomyopathy
RS727503261 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS727503262 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Primary familial dilated cardiomyopathy
RS727503263 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503264 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503265 MYH7 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS727503266 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503268 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS727503269 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Left ventricular noncompaction
RS727503271 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503272 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503274 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503276 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503277 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Cardiomyopathy
RS727503278 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Inborn genetic diseases
RS727503281 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
RS727503284 MYH9 Health Risk Likely pathogenic Rare genetic deafness, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS727503285 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS727503286 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS727503289 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
RS727503296 MYL2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503299 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy
RS727503303 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS727503304 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS727503306 MYLK2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 1
RS727503309 MYO15A Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS727503310 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS727503311 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS727503312 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS727503315 MYO15A Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS727503316 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Monogenic hearing loss
RS727503326 MYO6 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 22
RS727503328 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS727503329 MYO7A Health Risk Pathogenic Usher syndrome type 1, Rare genetic deafness
RS727503338 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727503344 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS727503350 OTOA Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727503351 OTOA Health Risk Conflicting classifications of pathogenicity —
RS727503352 OTOF Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727503356 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS727503359 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases
RS727503364 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727503373 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS727503374 PLN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1P, Cardiovascular phenotype
RS727503377 POU3F4 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS727503378 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS727503379 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS727503380 PTPN11 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome 3
RS727503381 PTPN11 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, RASopathy
RS727503382 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, RAF1-related disorder
RS727503384 RAF1 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS727503387 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS727503388 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS727503392 RBM20 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD
RS727503394 RSPH1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 24
RS727503396 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS727503401 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS727503402 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS727503407 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS727503410 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS727503411 SCN5A Health Risk Pathogenic/Likely pathogenic Brugada syndrome, Cardiovascular phenotype
RS727503415 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS727503416 SERPINB6 Health Risk Conflicting classifications of pathogenicity —
RS727503419 SGCD Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of delta-sarcoglycan, Qualitative or quantitative defects of delta-sarcoglycan
RS727503421 SGCD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS727503422 SGCD Health Risk Likely pathogenic Neuromuscular disease, Dilated cardiomyopathy 1L
RS727503425 SLC26A4 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4
RS727503427 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS727503428 SLC26A4 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4
RS727503430 SLC26A4 Health Risk Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4
RS727503431 SLC26A4 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Pendred syndrome
RS727503434 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS727503436 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, SOS1-related disorder
RS727503441 STRC Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 16, Inborn genetic diseases
RS727503442 STRC Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16
RS727503443 STRC Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16
RS727503444 STRC Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16
RS727503449 STRC Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS727503467 TECTA Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS727503470 TGFBR1 Health Risk Likely pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS727503472 TGFBR2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS727503475 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS727503476 TGFBR2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS727503477 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS727503479 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS727503483 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS727503485 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS727503490 TMEM127 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS727503492 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS727503493 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8
RS727503495 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
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