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
RS1565626928 TUBA1A Health Risk Pathogenic Tubulinopathy, Lissencephaly due to TUBA1A mutation
RS1565626951 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565626959 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565626988 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627023 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS1565627040 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1565627046 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627058 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627072 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1565627084 TUBA1A Health Risk Conflicting classifications of pathogenicity TUBA1A-related disorder, Lissencephaly due to TUBA1A mutation
RS1565627104 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627110 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Cardiovascular phenotype
RS1565627116 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS1565627145 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1565627164 TUBA1A Health Risk Likely pathogenic —
RS1565627184 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS1565627190 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Lissencephaly due to TUBA1A mutation
RS1565627220 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS1565627253 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627260 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627304 TUBA1A Health Risk Conflicting classifications of pathogenicity Tubulinopathy, Lissencephaly due to TUBA1A mutation
RS1565627324 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627339 TUBA1A Health Risk Conflicting classifications of pathogenicity Tubulinopathy, Lissencephaly due to TUBA1A mutation
RS1565627364 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS1565627390 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627513 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1565627517 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627526 TUBA1A Health Risk Pathogenic/Likely pathogenic Tubulinopathy, Lissencephaly due to TUBA1A mutation
RS1565627536 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1565627548 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627566 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565627615 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565627677 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627680 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627684 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627707 TUBA1A Health Risk Likely pathogenic Cerebellar vermis hypoplasia, Lissencephaly due to TUBA1A mutation
RS1565627712 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627727 TUBA1A Health Risk Pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS1565627735 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627740 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565627745 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1565627777 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Lissencephaly due to TUBA1A mutation
RS1565627795 TUBA1A Health Risk Conflicting classifications of pathogenicity Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1565627805 TUBA1A Health Risk Pathogenic Tubulinopathy, Lissencephaly due to TUBA1A mutation
RS1565627873 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Cardiovascular phenotype
RS1565628062 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565628078 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565628486 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565628520 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1565629479 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1565629792 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS1565630293 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565631094 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS1565631381 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565631424 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565631428 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1565631430 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS1565631849 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565631856 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565634591 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565635212 MEN1 Health Risk Pathogenic Somatotroph adenoma, Somatotroph adenoma
RS1565635941 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565636541 AQP2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS1565637179 AQP2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS1565637189 AQP2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS1565637724 MEN1 Health Risk Pathogenic —
RS1565638316 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS1565638431 SPI1 Health Risk Pathogenic PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10
RS1565640081 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565642121 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS1565642765 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565644005 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1565644366 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1565645563 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1565646772 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565647197 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565647767 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565647825 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1565648511 MEN1 Health Risk Pathogenic —
RS1565648547 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565648608 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS1565648656 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565648789 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1565649749 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1565651223 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565651568 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565651820 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1565651873 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1565652689 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565652770 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1565653781 RDH5 Health Risk Likely pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS1565662161 KCNJ8 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS1565664095 COL2A1 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS1565666048 COL2A1 Health Risk Pathogenic —
RS1565666318 COL2A1 Health Risk Pathogenic —
RS1565669269 SOX5 Health Risk Likely pathogenic —
RS1565669640 SOX5 Health Risk Pathogenic/Likely pathogenic Lamb-Shaffer syndrome, Inborn genetic diseases
RS1565672299 COL2A1 Health Risk Likely pathogenic —
RS1565673352 PEX5 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1565674604 COL2A1 Health Risk Pathogenic —
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