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
RS397517184 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Intellectual disability and myopathy syndrome
RS397517188 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS397517191 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS397517194 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS397517195 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Inborn genetic diseases
RS397517196 WFS1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517198 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS397517199 PIK3CA Health Risk Pathogenic CLOVES syndrome, PIK3CA related overgrowth syndrome
RS397517200 PIK3CA Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517201 PIK3CA Health Risk Likely pathogenic Ovarian neoplasm, Abnormal cardiovascular system morphology
RS397517202 PIK3CA Health Risk Pathogenic/Likely pathogenic Non-small cell lung carcinoma, PIK3CA related overgrowth syndrome
RS397517207 LDB3 Health Risk Conflicting classifications of pathogenicity —
RS397517209 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS397517214 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS397517237 VCL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS397517244 VCL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1W
RS397517245 VCL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1W
RS397517246 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS397517248 ANKRD1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
RS397517251 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiomyopathy
RS397517252 ANKRD1 Health Risk Conflicting classifications of pathogenicity Congenital total pulmonary venous return anomaly, ANKRD1-related dilated cardiomyopathy
RS397517255 WHRN Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517258 WHRN Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517263 PRKAG2 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6
RS397517266 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS397517268 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern
RS397517269 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS397517270 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6
RS397517274 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS397517278 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS397517283 PRKAG2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS397517285 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS397517286 MYO15A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517287 MYO15A Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS397517289 MYOZ2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS397517298 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS397517301 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS397517305 CDH23 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Rare genetic deafness
RS397517307 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS397517309 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS397517310 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS397517313 CDH23 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517319 CDH23 Health Risk Conflicting classifications of pathogenicity CDH23-related disorder, CDH23-related disorder
RS397517321 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS397517323 CDH23 Health Risk Pathogenic Rare genetic deafness, Hearing loss
RS397517324 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS397517326 CDH23 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517327 CDH23 Health Risk Pathogenic Rare genetic deafness, Pituitary adenoma 5
RS397517329 CDH23 Health Risk Pathogenic Rare genetic deafness, Pituitary adenoma 5
RS397517331 CDH23 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517333 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 12
RS397517334 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS397517337 CDH23 Health Risk Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 12
RS397517341 CDH23 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Pituitary adenoma 5
RS397517342 CDH23 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 1
RS397517343 CDH23 Health Risk Conflicting classifications of pathogenicity CDH23-related disorder, CDH23-related disorder
RS397517344 CDH23 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Usher syndrome type 1
RS397517346 CDH23 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517347 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS397517350 CDH23 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 1
RS397517353 CDH23 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 1D
RS397517354 CDH23 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517355 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS397517356 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 12
RS397517362 CDH23 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517367 CDH23 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 1
RS397517368 TMPRSS3 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS397517371 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS397517376 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Hearing impairment
RS397517379 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS397517384 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS397517386 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Auditory neuropathy
RS397517387 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS397517390 DSC2 Health Risk Conflicting classifications of pathogenicity —
RS397517391 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS397517392 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS397517393 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS397517394 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS397517395 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Familial isolated arrhythmogenic right ventricular dysplasia
RS397517396 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS397517399 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS397517400 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS397517403 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS397517404 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS397517406 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS397517408 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS397517411 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS397517415 MAP2K2 Health Risk Conflicting classifications of pathogenicity —
RS397517418 ADGRV1 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS397517420 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS397517423 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS397517426 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517427 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Usher syndrome type 2
RS397517429 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517434 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS397517435 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517436 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517439 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS397517440 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS397517441 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
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