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
RS281865324 TYR Health Risk Pathogenic —
RS281865328 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS281865332 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS281865333 RS1 Health Risk Pathogenic —
RS281865334 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS281865335 RS1 Health Risk Pathogenic Retinal dystrophy, Juvenile retinoschisis
RS281865336 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS281865340 RS1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS281865341 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS281865342 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS281865343 RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS281865344 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS281865345 RS1 Health Risk Likely pathogenic Retinoschisis, Retinal dystrophy
RS281865346 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS281865348 RS1 Health Risk Pathogenic Juvenile retinoschisis, Retinal dystrophy
RS281865349 RS1 Health Risk Pathogenic Retinoschisis, Retinoschisis
RS281865351 RS1 Health Risk Pathogenic/Likely pathogenic —
RS281865352 RS1 Health Risk Likely pathogenic Retinoschisis, Retinal dystrophy
RS281865354 RS1 Health Risk Pathogenic Retinal dystrophy, Juvenile retinoschisis
RS281865355 CDKL5;RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Retinal dystrophy
RS281865356 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865357 RS1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Juvenile retinoschisis
RS281865358 RS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865359 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865361 CDKL5;RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Retinal dystrophy
RS281865362 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865363 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS281865364 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Retinal dystrophy
RS281865365 RS1 Health Risk Pathogenic Juvenile retinoschisis, Developmental and epileptic encephalopathy
RS281865366 RS1 Health Risk Pathogenic —
RS281865367 RS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865368 RS1 Health Risk Likely pathogenic Retinal dystrophy, Juvenile retinoschisis
RS281865369 RS1 Health Risk Likely pathogenic Retinal dystrophy, Juvenile retinoschisis
RS281865372 PRPH2 Health Risk Pathogenic Pigmentary retinal dystrophy, PRPH2-related disorder
RS281865373 PRPH2 Health Risk Pathogenic PRPH2-related disorder, Retinal dystrophy
RS281865374 PRPH2 Health Risk Pathogenic —
RS281865375 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS281865377 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Macular dystrophy
RS281865381 ABCA4 Health Risk Pathogenic —
RS281865382 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS281865383 ABCA4 Health Risk Pathogenic —
RS281865399 ABCA4 Health Risk Pathogenic —
RS281865402 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS281865407 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS281865408 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS281865409 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy
RS281865410 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy
RS281865411 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS281865414 PTPRQ Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS281865416 CSRP3 Health Risk Pathogenic Hypertrophic cardiomyopathy 12, Hypertrophic cardiomyopathy 12
RS281865417 MT-CO1 Health Risk Pathogenic Familial colorectal cancer, Familial colorectal cancer
RS281865418 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1
RS281865419 TNF Health Risk Pathogenic TNF receptor binding, altered
RS281865420 FGFR2 Health Risk Pathogenic -, -
RS281865421 KCNE1 Health Risk Pathogenic/Likely pathogenic Jervell and Lange-Nielsen syndrome 2, Long QT syndrome
RS281865422 IGHM Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS281865424 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Nonsyndromic Oculocutaneous Albinism
RS281865425 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1
RS281865426 COL4A1 Health Risk Pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS281865427 GNRHR Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS281865428 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865429 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865430 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865433 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS281865435 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS281865436 PAH Health Risk Likely pathogenic Phenylketonuria, See cases
RS281865438 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS281865440 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865442 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS281865443 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS281865444 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865445 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS281865447 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865448 PAH Health Risk Pathogenic Phenylketonuria, Mild hyperphenylalaninemia
RS281865449 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865454 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS281865455 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865456 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865464 ANO5 Health Risk Pathogenic/Likely pathogenic Miyoshi muscular dystrophy 3, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS281865467 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS281865468 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Inborn genetic diseases
RS281865469 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Global developmental delay
RS281865470 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Uterine corpus endometrial carcinoma
RS281865471 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS281865473 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS281865474 HBB Health Risk Pathogenic —
RS281865475 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS281865477 HBB Health Risk Pathogenic Dominant beta-thalassemia, Dominant beta-thalassemia
RS281865480 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS281865486 TK2 Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
RS281865487 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial disease, Mitochondrial DNA depletion syndrome
RS281865488 TK2 Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS281865489 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS281865490 TK2 Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS281865491 TK2 Health Risk Likely pathogenic —
RS281865492 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome, Mitochondrial disease
RS281865493 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS281865494 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS281865495 TK2 Health Risk Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
RS281865496 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
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