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
RS121917854 IHH Health Risk Pathogenic Brachydactyly type A1, Brachydactyly type A1
RS121917855 IHH Health Risk Pathogenic Brachydactyly type A1, Brachydactyly type A1A
RS121917856 IHH Health Risk Pathogenic Acrocapitofemoral dysplasia, Acrocapitofemoral dysplasia
RS121917857 IHH Health Risk Pathogenic Acrocapitofemoral dysplasia, Acrocapitofemoral dysplasia
RS121917858 KERA Health Risk Pathogenic Cornea plana 2, Cornea plana 2
RS121917859 IHH Health Risk Pathogenic Brachydactyly type A1, Brachydactyly type A1
RS121917860 KERA Health Risk Pathogenic Cornea plana 2, Cornea plana 2
RS121917861 IHH Health Risk Pathogenic Brachydactyly type A1, Brachydactyly type A1
RS121917862 KERA Health Risk Pathogenic Cornea plana 2, Cornea plana 2
RS121917863 KERA Health Risk Pathogenic Cornea plana 2, Cornea plana 2
RS121917864 TLR2 Health Risk risk factor Leprosy, susceptibility to
RS121917865 NUP62 Health Risk Pathogenic Infantile bilateral striatal necrosis, Infantile bilateral striatal necrosis
RS121917867 MIP Health Risk Pathogenic Cataract 15 multiple types, Cataract 15 multiple types
RS121917868 CPOX Health Risk Pathogenic/Likely pathogenic Harderoporphyria, Hereditary coproporphyria
RS121917869 MIP Health Risk Likely pathogenic Cataract 15 multiple types, Cataract 15 multiple types
RS121917870 CPOX Health Risk Pathogenic Coproporphyria, Coproporphyria
RS121917871 CPOX Health Risk Pathogenic Coproporphyria, Coproporphyria
RS121917872 CPOX Health Risk Pathogenic Coproporphyria, Coproporphyria
RS121917873 CPOX Health Risk Pathogenic Coproporphyria, Coproporphyria
RS121917874 CPOX Health Risk Pathogenic COPROPORPHYRIA, DIGENIC
RS121917875 NHLRC1 Health Risk Pathogenic Myoclonic epilepsy of Lafora 2, Myoclonic epilepsy of Lafora 2
RS121917876 NHLRC1 Health Risk Likely pathogenic Myoclonic epilepsy of Lafora 2, Lafora disease
RS121917878 SIX3 Health Risk Pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS121917879 SIX3 Health Risk Likely pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS121917880 SIX3 Health Risk Pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS121917882 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Inborn genetic diseases
RS121917883 GHSR Health Risk Conflicting classifications of pathogenicity Short stature due to growth hormone secretagogue receptor deficiency, Inborn genetic diseases
RS121917884 SLC19A3 Health Risk Likely pathogenic Biotin-responsive basal ganglia disease, Inborn genetic diseases
RS121917888 HCCS Health Risk Pathogenic Linear skin defects with multiple congenital anomalies 1, Linear skin defects with multiple congenital anomalies 1
RS121917889 HCCS Health Risk Likely pathogenic Linear skin defects with multiple congenital anomalies 1, HCCS-related disorder
RS121917892 UMPS Health Risk Pathogenic Oroticaciduria, Oroticaciduria
RS121917893 NLGN3 Health Risk risk factor Autism, susceptibility to
RS121917894 RAG2 Health Risk Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS121917895 RAG2 Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS121917896 RAG2 Health Risk Likely pathogenic Histiocytic medullary reticulosis, Recombinase activating gene 2 deficiency
RS121917897 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, B cell-negative
RS121917898 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS121917899 PQBP1 Health Risk Pathogenic Renpenning syndrome, Renpenning syndrome
RS121917900 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS121917901 ERCC6 Health Risk Pathogenic DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS121917902 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS121917903 ERCC6 Health Risk Pathogenic UV-sensitive syndrome 1, Cockayne syndrome type 2
RS121917904 ERCC6 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 1, ERCC6-related disorder
RS121917906 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 1
RS121917908 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS121917909 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917910 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Migraine
RS121917911 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917912 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121917913 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917914 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121917915 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917918 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Migraine
RS121917919 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917921 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917922 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917923 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121917926 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917927 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Migraine
RS121917928 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917929 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917930 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS121917931 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS121917935 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS121917936 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917937 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917938 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917939 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS121917941 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917943 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917945 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, See cases
RS121917949 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121917950 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121917951 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917952 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917953 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS121917954 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS121917955 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS121917957 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS121917959 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121917960 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS121917961 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, See cases
RS121917963 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917964 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Migraine
RS121917965 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Migraine
RS121917966 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS121917967 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121917969 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917971 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Seizure
RS121917972 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121917973 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121917974 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS121917975 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121917976 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Migraine
RS121917978 SCN1A Health Risk Pathogenic —
RS121917979 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy 6B
RS121917980 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121917981 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121917982 SCN1A Health Risk Pathogenic —
RS121917983 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
« Prev 1 ... 274 275 276 277 278 279 280 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →