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
RS558917628 LPAR6;RB1 Health Risk Pathogenic Wooly hair, autosomal recessive 3
RS55892037 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, NTRK1-related disorder
RS558925508 DGKZ Health Risk Conflicting classifications of pathogenicity —
RS55892928 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS558942739 KLF1 Health Risk Conflicting classifications of pathogenicity BLOOD GROUP--LUTHERAN INHIBITOR, Malignant lymphoma
RS558947304 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS558955595 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS55895813 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS558958395 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS558960349 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Christianson syndrome
RS558965718 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS558966732 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS558968332 EXT2 Health Risk Pathogenic Exostoses, multiple
RS558973276 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS558975598 KDM5B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 65
RS55898359 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS558985278 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS558998633 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS558998873 CACNB4 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS559004744 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS559012648 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS559014773 ANO3 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Inborn genetic diseases
RS55901542 SORD Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS559015964 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS559019677 CDT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS559028617 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS559031201 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS559031643 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS559040957 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS559043503 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, Citrullinemia type I
RS559044448 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Isolated Nonsyndromic Congenital Heart Disease
RS55905349 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS559055296 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS559057238 CD151 Health Risk Conflicting classifications of pathogenicity CD151-related disorder, CD151-related disorder
RS559057715 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency
RS559058243 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS559063128 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS559063155 SF3B1 Health Risk Conflicting classifications of pathogenicity Chronic myelogenous leukemia, BCR-ABL1 positive
RS559067146 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS55906835 INSR Health Risk Conflicting classifications of pathogenicity —
RS55906845 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS55906931 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS559077429 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS559078811 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS559078881 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS559088058 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS55909400 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS559099409 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS559102186 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS55910507 SRPK3 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Familial cancer of breast
RS559105655 CIB1 Health Risk Conflicting classifications of pathogenicity —
RS559106452 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS559119402 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS559125434 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS559130985 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS559133074 CYP4V2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS559136479 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS559137047 ABCC2 Health Risk Pathogenic —
RS559137278 TOP3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TOP3A-related disorder
RS55914168 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS559143316 RNF135 Health Risk Conflicting classifications of pathogenicity —
RS559143773 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS55914517 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS559154874 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS559155109 MFSD8 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS55915536 RHO Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa
RS55915651 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS559157737 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS55916212 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS559166014 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS55916864 SPEG Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS55916957 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS559176411 LMF1 Health Risk Conflicting classifications of pathogenicity Lipase deficiency, combined
RS559176918 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS559183946 TFAP2A Health Risk Conflicting classifications of pathogenicity Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS559186877 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS559187972 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS559190059 NFU1 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
RS559193058 PCDH15 Health Risk Conflicting classifications of pathogenicity PCDH15-related disorder, PCDH15-related disorder
RS55919561 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS559206877 CAV3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Long QT syndrome
RS559209306 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS559209309 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS55921307 USH2A Health Risk Pathogenic —
RS559224144 PLEKHM1 Health Risk Pathogenic Osteopetrosis, autosomal dominant 3
RS559227588 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS55923848 NRXN1 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Pitt-Hopkins-like syndrome 2
RS559239150 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS559239495 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS55924349 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 38
RS55924966 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS559259997 CREB3L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS559271953 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS559278757 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS55928397 CFTR Health Risk Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS559293815 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS559313229 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS559314300 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, IFT140-related disorder
RS559315266 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS55932343 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
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