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
RS2524347160 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524347327 COL4A5 Health Risk Likely pathogenic —
RS2524348349 GNAT2 Health Risk Likely pathogenic —
RS2524349168 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524349632 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524351874 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524353140 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524353808 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524356477 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524357635 MYSM1 Health Risk Pathogenic —
RS2524357772 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524360107 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524360459 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2524361370 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524364976 DMD Health Risk Likely pathogenic —
RS2524365256 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524366542 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524367671 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524368407 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524369262 DMD Health Risk Pathogenic —
RS2524370040 DMD Health Risk Pathogenic See cases, See cases
RS2524372801 CLDN19 Health Risk Pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS2524373926 DPYD Health Risk Likely pathogenic DPYD-related disorder, Dihydropyrimidine dehydrogenase deficiency
RS2524374326 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524375503 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2524375517 COL4A5 Health Risk Pathogenic —
RS2524375533 COL4A5 Health Risk Pathogenic —
RS2524375738 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524375862 COL4A5 Health Risk Pathogenic —
RS2524375879 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524375969 CLCNKB Health Risk Pathogenic —
RS2524377118 AMPD2 Health Risk Pathogenic Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9
RS2524377730 VPS13D Health Risk Pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2524377897 CLCNKB Health Risk Pathogenic —
RS2524386003 CLCNKB Health Risk Likely pathogenic Bartter disease type 3, Bartter disease type 3
RS2524387018 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2524389129 CLCNKB Health Risk Likely pathogenic Bartter disease type 3, Bartter disease type 3
RS2524389961 CLCNKB Health Risk Likely pathogenic Bartter disease type 3, Bartter disease type 3
RS2524392157 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524392830 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524395082 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524395125 COL4A5 Health Risk Likely pathogenic —
RS2524395369 COL4A5 Health Risk Pathogenic —
RS2524395491 COL4A5 Health Risk Pathogenic —
RS2524395686 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524395776 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524396617 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524396708 COL4A5 Health Risk Pathogenic —
RS2524398223 AMPD2 Health Risk Pathogenic Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9
RS2524398325 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524399538 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524399688 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524400773 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta
RS2524400774 CLCNKB Health Risk Likely pathogenic —
RS2524401276 CLCNKB Health Risk Likely pathogenic —
RS2524403418 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, Melanoma
RS2524403492 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524403534 COL4A5 Health Risk Pathogenic COL4A5-related disorder, COL4A5-related disorder
RS2524403583 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524403936 COL4A5 Health Risk Likely pathogenic —
RS2524403948 COL4A5 Health Risk Pathogenic COL4A5-related disorder, COL4A5-related disorder
RS2524404029 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2524404043 COL4A5 Health Risk Likely pathogenic —
RS2524404117 COL4A5 Health Risk Likely pathogenic —
RS2524404232 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, COL4A5-related disorder
RS2524405777 VPS13D Health Risk Pathogenic Autosomal recessive cerebellar ataxia, Autosomal recessive cerebellar ataxia
RS2524405833 VPS13D Health Risk Pathogenic —
RS2524407451 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524407657 COL4A5 Health Risk Pathogenic Inborn genetic diseases, X-linked Alport syndrome
RS2524408042 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524408108 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524408358 COL4A5 Health Risk Pathogenic —
RS2524408618 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524408721 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524414128 COL4A5 Health Risk Likely pathogenic —
RS2524414237 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, COL4A5-related disorder
RS2524414327 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524414414 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524414428 COL4A5 Health Risk Likely pathogenic —
RS2524414626 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524414663 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524415501 AMPD2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63
RS2524418358 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524419851 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524419875 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524419984 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS2524420036 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524420389 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524420445 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524420680 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Nonpapillary renal cell carcinoma
RS2524420706 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524422337 HUWE1 Health Risk Likely pathogenic HUWE1-related disorder, HUWE1-related disorder
RS2524422819 COL4A5 Health Risk Likely pathogenic COL4A5-related disorder, COL4A5-related disorder
RS2524422870 EPHA10 Health Risk Pathogenic Nonsyndromic Deafness, Hearing loss
RS2524422937 COL4A5 Health Risk Pathogenic —
RS2524423431 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2524423658 COL4A5 Health Risk Pathogenic —
RS2524430122 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2524431684 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2524432375 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
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