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
RS727504242 TNNI3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
RS727504243 TNNI3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504244 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS727504245 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS727504246 TNNT2 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D
RS727504247 TNNT2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS727504248 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504252 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504253 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS727504255 TNNT2 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 2
RS727504259 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504260 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS727504261 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504262 LAMP2 Health Risk Likely pathogenic Danon disease, Danon disease
RS727504264 TPM1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504265 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504267 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504269 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504271 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504272 MYH7 Health Risk Likely pathogenic MYH7-related disorder, Hypertrophic cardiomyopathy
RS727504273 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS727504274 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504275 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504276 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504277 TNNT2 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504279 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504283 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504285 TNNI3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS727504286 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504287 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS727504288 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS727504289 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiomyopathy
RS727504290 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504291 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504292 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome, Loeys-Dietz syndrome 2
RS727504293 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504294 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504295 SOS1 Health Risk Pathogenic Noonan syndrome, RASopathy
RS727504299 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS727504300 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
RS727504301 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Rare genetic deafness
RS727504302 GJB2 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A
RS727504303 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Pendred syndrome
RS727504304 TMPRSS3 Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8
RS727504305 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504307 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS727504308 ACTC1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS727504309 GJB2 Health Risk Conflicting classifications of pathogenicity 8 conditions, Autosomal recessive nonsyndromic hearing loss 1A
RS727504310 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Cardiovascular phenotype
RS727504311 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS727504313 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504314 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504315 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS727504317 MAP2K1 Health Risk Pathogenic Cardiofaciocutaneous syndrome 3, RASopathy
RS727504319 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504320 MYH7 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS727504321 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504322 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS727504323 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504325 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504327 TAFAZZIN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, 3-Methylglutaconic aciduria type 2
RS727504329 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504331 TNNT2 Health Risk Pathogenic/Likely pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504333 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504334 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS727504340 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS727504344 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Diabetic retinopathy, Diabetic retinopathy
RS727504347 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS727504348 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Hypertrophic cardiomyopathy
RS727504349 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504350 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS727504356 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504366 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS727504367 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504370 MAP2K2 Health Risk Likely pathogenic RASopathy, Cardio-facio-cutaneous syndrome
RS727504371 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504374 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS727504375 BRAF Health Risk Conflicting classifications of pathogenicity Cardio-facio-cutaneous syndrome, Noonan syndrome
RS727504379 ACTC1 Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 11
RS727504381 VCL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727504382 MAP2K2 Health Risk Likely pathogenic RASopathy, Cardio-facio-cutaneous syndrome
RS727504385 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504389 TPM1 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727504390 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504392 PRKAG2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504394 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, Primary dilated cardiomyopathy
RS727504396 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS727504397 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS727504399 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS727504406 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS727504407 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504409 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504410 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS727504411 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS727504412 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS727504417 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS727504419 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727504420 APC Health Risk Likely pathogenic Familial multiple polyposis syndrome, Familial multiple polyposis syndrome
RS727504421 TGFBR2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS727504423 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
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