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
RS121912894 COL2A1 Health Risk Likely pathogenic Autosomal dominant rhegmatogenous retinal detachment, Autosomal dominant rhegmatogenous retinal detachment
RS121912895 COL2A1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type
RS121912896 COL2A1 Health Risk Pathogenic Stickler syndrome, type I
RS121912897 COL2A1 Health Risk Pathogenic Stickler syndrome, type I
RS121912898 COL2A1 Health Risk Pathogenic Stickler syndrome, type I
RS121912899 COL2A1 Health Risk Pathogenic Achondrogenesis type II, Achondrogenesis type II
RS121912900 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS121912901 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS121912902 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS121912903 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS121912904 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS121912905 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type III, Ehlers-Danlos syndrome
RS121912906 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS121912907 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS121912908 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, perinatal lethal
RS121912909 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS121912910 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS121912911 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS121912912 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS121912913 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912914 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912915 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912916 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912917 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912918 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912919 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS121912920 COL3A1 Health Risk Pathogenic EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT
RS121912921 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS121912922 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912923 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS121912924 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912925 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS121912926 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912927 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912928 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS121912930 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS121912931 COL9A1 Health Risk Pathogenic Stickler syndrome, type 4
RS121912933 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS121912934 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS121912935 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS121912936 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS121912937 COL6A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS121912938 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS121912939 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A
RS121912940 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1B
RS121912942 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, BETHLEM MYOPATHY 1B
RS121912943 COL11A1 Health Risk Pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS121912944 COL11A1 Health Risk Pathogenic Marshall/Stickler syndrome, Marshall/Stickler syndrome
RS121912945 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS121912946 COL11A2 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS121912947 COL11A2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 13, Rare genetic deafness
RS121912948 COL11A2 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 13, Autosomal dominant nonsyndromic hearing loss 13
RS121912949 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS121912950 COL11A2 Health Risk Pathogenic/Likely pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS121912951 COL11A2 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS121912952 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 53, Hearing impairment
RS121912953 MMP2 Health Risk Pathogenic Multicentric osteolysis, nodulosis
RS121912954 MMP2 Health Risk Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis
RS121912955 MMP2 Health Risk Likely pathogenic Multicentric osteolysis, nodulosis
RS121912965 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS121912967 DCC Health Risk Pathogenic Esophageal carcinoma, somatic
RS121912968 GJB2 Health Risk Pathogenic Palmoplantar keratoderma-deafness syndrome, Palmoplantar keratoderma-deafness syndrome
RS121912969 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS121912970 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, autosomal recessive
RS121912971 MSX2 Health Risk Pathogenic Parietal foramina 1, Parietal foramina 1
RS121912972 MSX2 Health Risk Pathogenic Parietal foramina 1, Parietal foramina 1
RS121912973 CRYAA Health Risk Pathogenic Cataract 9, multiple types
RS121912974 POR Health Risk Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS121912975 POR Health Risk Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS121912976 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS121912977 CYP11B2 Health Risk Pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyl oxidase type II deficiency
RS121912978 CYP11B2 Health Risk Pathogenic Corticosterone methyloxidase type 2 deficiency, Corticosterone methyl oxidase type II deficiency
RS121912979 CYP11B2 Health Risk Pathogenic Corticosterone methyloxidase type 2 deficiency, Corticosterone methyloxidase type 2 deficiency
RS121912980 ALAD Health Risk Likely pathogenic Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
RS121912983 ALAD Health Risk Pathogenic Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
RS121912984 ALAD Health Risk Conflicting classifications of pathogenicity PORPHYRIA, ACUTE HEPATIC
RS121912985 DSPP Health Risk Pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS121912986 DSPP Health Risk Pathogenic Deafness, autosomal dominant nonsyndromic sensorineural 39
RS121912987 DSPP Health Risk Pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 3
RS121912989 DSPP Health Risk Pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS121912990 DNASE1 Health Risk risk factor Systemic lupus erythematosus, susceptibility to
RS121912991 DSP Health Risk Pathogenic Keratosis palmoplantaris striata 2, Arrhythmogenic right ventricular dysplasia 8
RS121912992 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS121912993 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS121912994 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS121912995 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS121912996 DSP Health Risk Pathogenic/Likely pathogenic Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS121912997 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Primary dilated cardiomyopathy
RS121912998 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular cardiomyopathy
RS121912999 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular cardiomyopathy
RS121913000 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS121913002 DES Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy
RS121913003 DES Health Risk Pathogenic/Likely pathogenic Desmin-related myofibrillar myopathy, Cardiomyopathy
RS121913004 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS121913005 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS121913006 DSG2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS121913007 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS121913008 DSG2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS121913010 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS121913011 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
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