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
RS45517413 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS45517414 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45517418 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517419 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS45517420 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517932 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS45519531 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS45519733 SLC4A1 Health Risk Likely pathogenic Autosomal dominant distal renal tubular acidosis, Autosomal dominant distal renal tubular acidosis
RS45520032 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS45520237 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS45521338 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS45522138 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 3
RS45522236 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS45522532 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS45523233 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS45524433 UCP2 Health Risk Conflicting classifications of pathogenicity UCP2-related disorder, UCP2-related disorder
RS45524646 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS45525839 TNNT2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1D
RS45526732 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS45527543 WHRN Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa-deafness syndrome, Autosomal recessive nonsyndromic hearing loss 31
RS45528833 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45531732 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS45532440 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS45532739 TNNI3K Health Risk Conflicting classifications of pathogenicity TNNI3K-related disorder, Atrial conduction disease
RS45533636 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45535636 WEE2 Health Risk Conflicting classifications of pathogenicity WEE2-related disorder, WEE2-related disorder
RS45537237 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS45538536 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS45539432 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder
RS45539535 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS45539936 CTSC Health Risk Conflicting classifications of pathogenicity Papillon-Lefèvre syndrome, Haim-Munk syndrome
RS45540031 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS45540732 TCAP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
RS45543843 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS45544633 MYH7 Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS45545138 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, IL10RB-related disorder
RS45546039 SCN5A Health Risk Pathogenic Dilated cardiomyopathy 1E, Congenital long QT syndrome
RS45547231 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS45548237 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS45548638 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45549044 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS45549246 SIX6 Health Risk Conflicting classifications of pathogenicity Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Anophthalmia-microphthalmia syndrome
RS45549534 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Dilated cardiomyopathy 3B
RS45550635 CSRP3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1M, Primary dilated cardiomyopathy
RS45551636 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45553235 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome
RS45553236 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS45553935 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS45555435 USH2A Health Risk Likely pathogenic Usher syndrome type 2, Usher syndrome type 2
RS45555831 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS45559331 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS45559338 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS45560242 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS45561331 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45562031 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Hemolytic anemia
RS45562835 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS45563431 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS45563436 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS45563942 SCN5A Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1E, Primary dilated cardiomyopathy
RS45564238 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS45564937 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS45565337 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS45566639 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1
RS45566933 GAD1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases
RS45566938 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS45567240 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS45568335 ABCD4 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblJ
RS45568837 SLC4A1 Health Risk Conflicting classifications of pathogenicity —
RS45570339 ANK2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS45570735 TP53RK Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
RS45572934 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45572939 F7 Health Risk Conflicting classifications of pathogenicity Factor VII deficiency, Factor VII deficiency
RS45573835 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS45574039 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS45574335 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS45575636 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS45576136 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS45577134 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS45577338 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS45578238 TNNT2 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1D, Primary dilated cardiomyopathy
RS45579032 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS45579739 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Autosomal recessive limb-girdle muscular dystrophy type 2N
RS45580035 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS45581435 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS45585831 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS45585833 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS45586239 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS45586240 TNNT2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS45587542 PIK3AP1 Health Risk Conflicting classifications of pathogenicity Infantile spasms, Infantile spasms
RS45587735 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS45587940 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS45588036 GHR Health Risk Conflicting classifications of pathogenicity Short stature due to partial GHR deficiency, Short stature due to partial GHR deficiency
RS45588436 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS45589337 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Inborn genetic diseases
RS45589637 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS45590135 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS45592142 XRCC1 Health Risk association Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma
RS45592239 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS45592846 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS45592941 TCAP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
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