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
RS1569845887 PLEKHG5 Health Risk Likely pathogenic —
RS1569848362 PLA2G5 Health Risk Pathogenic Late-onset retinal degeneration, Late-onset retinal degeneration
RS1569851570 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1569853976 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1569854012 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1569854342 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1569854381 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2
RS1569861708 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1569862384 MFN2 Health Risk Likely pathogenic —
RS1569865516 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1569868729 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1569871830 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1569875704 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1569882539 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1569889919 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2
RS1569960119 UROD Health Risk Likely pathogenic —
RS1569967143 UROD Health Risk Pathogenic Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS1569967422 LCK Health Risk Likely pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS1570008399 ADPRS Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS1570012058 ADPRS Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS1570013257 ADPRS Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS1570018597 PRDM2 Health Risk Likely pathogenic Flexion contracture, Flexion contracture
RS1570024112 CDC42 Health Risk Likely pathogenic Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
RS1570073403 C1QA Health Risk Likely pathogenic C1Q deficiency 1, C1Q deficiency
RS1570098248 PAX7 Health Risk Pathogenic Myopathy, congenital
RS1570099690 RSPO1 Health Risk Pathogenic Palmoplantar hyperkeratosis and true hermaphroditism, Palmoplantar hyperkeratosis and true hermaphroditism
RS1570108068 STIL Health Risk Likely pathogenic —
RS1570122721 NFIA Health Risk Likely pathogenic —
RS1570123287 NFIA Health Risk Likely pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS1570186429 AK2 Health Risk Likely pathogenic Reticular dysgenesis, Reticular dysgenesis
RS1570190059 AGRN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 8
RS1570193864 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1570195582 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1570238098 MFSD2A Health Risk Pathogenic 8 conditions, 8 conditions
RS1570242061 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1570273880 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS1570276523 ALPL Health Risk Likely pathogenic —
RS1570301527 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1570309482 ALPL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1570312139 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570312735 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570312788 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570319915 ATAD3A Health Risk Pathogenic Pontocerebellar hypoplasia, hypotonia
RS1570332505 DHDDS Health Risk Pathogenic/Likely pathogenic Developmental delay and seizures with or without movement abnormalities, Inborn genetic diseases
RS1570334344 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 3
RS1570340095 CLCNKB Health Risk Likely pathogenic Bartter disease type 3, Bartter disease type 3
RS1570341086 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 3
RS1570345942 ATAD3A Health Risk Pathogenic Congenital cerebellar hypoplasia, Pontocerebellar hypoplasia
RS1570346203 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570346782 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570362086 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570363119 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570364144 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570366181 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1570367144 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS1570367230 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1570367367 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1570367398 ABCA4 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Retinal dystrophy
RS1570370748 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570370826 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1570370929 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1570373385 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1570373408 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Retinal dystrophy
RS1570373782 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1570376147 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1570377836 ABCA4 Health Risk Likely pathogenic —
RS1570377861 ABCA4 Health Risk Likely pathogenic Stargardt disease, Retinal dystrophy
RS1570380080 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS1570381679 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570382663 ABCA4 Health Risk Likely pathogenic Retinitis pigmentosa, Cone-rod dystrophy 3
RS1570382710 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1570382822 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1570385510 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570386206 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1570386293 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570387558 ABCA4 Health Risk Likely pathogenic —
RS1570388553 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570392557 ABCA4 Health Risk Pathogenic —
RS1570393727 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1570393848 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy 3, Cone-rod dystrophy 3
RS1570394071 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1570395209 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570396086 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570401055 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570402446 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570403798 EPHA2 Health Risk Likely pathogenic Cataract 6 multiple types, Cataract 6 multiple types
RS1570404090 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570406175 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Congenital primary aphakia
RS1570406302 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Gastric cancer
RS1570406957 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570407032 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1570407081 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570407749 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570408704 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1570409378 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS1570409596 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570409700 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1570415363 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570423722 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570423912 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
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