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
RS2537139887 CFAP418 Health Risk Pathogenic Cone-rod dystrophy 16, Retinal dystrophy
RS2537141455 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS2537142167 KIF1A Health Risk Likely pathogenic KIF1A-related disorder, KIF1A-related disorder
RS2537149434 CFAP418 Health Risk Pathogenic —
RS2537162620 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2537169914 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2537182031 PEX3 Health Risk Pathogenic —
RS2537182158 PEX3 Health Risk Pathogenic —
RS2537186945 PEX3 Health Risk Pathogenic —
RS2537193194 PEX3 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2537193288 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nicolaides-Baraitser syndrome
RS2537194228 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537195567 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537196651 PEX3 Health Risk Likely pathogenic —
RS2537196715 PEX3 Health Risk Pathogenic —
RS2537199055 PEX3 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2537199126 PEX3 Health Risk Pathogenic —
RS2537205726 EYA1 Health Risk Likely pathogenic Otofaciocervical syndrome 1, Otofaciocervical syndrome 1
RS2537208023 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2537208469 EYA1 Health Risk Pathogenic Branchiootorenal syndrome 1, Branchiootorenal syndrome 1
RS2537209067 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2537209124 EYA1 Health Risk Pathogenic Branchiootic syndrome 1, Branchiootic syndrome 1
RS2537251153 SLC52A2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2537254905 TRAPPC9 Health Risk Likely pathogenic —
RS2537257570 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537260421 SYNGAP1 Health Risk Pathogenic —
RS2537260821 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537261082 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS2537261425 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537262005 FGFR1 Health Risk Likely pathogenic FGFR1-related disorder, FGFR1-related disorder
RS2537262217 MPIG6B Health Risk Pathogenic —
RS2537263906 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS2537268171 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537271517 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS2537272542 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537273757 MPIG6B Health Risk Likely pathogenic Thrombocytopenia, anemia
RS2537273857 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Branchiootorenal syndrome 1
RS2537274008 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2537274013 TYRP1 Health Risk Pathogenic —
RS2537274059 EYA1 Health Risk Likely pathogenic —
RS2537274064 TYRP1 Health Risk Pathogenic —
RS2537274178 MPIG6B Health Risk Likely pathogenic Thrombocytopenia, anemia
RS2537274368 TYRP1 Health Risk Pathogenic —
RS2537274535 TYRP1 Health Risk Pathogenic —
RS2537274612 TYRP1 Health Risk Pathogenic —
RS2537274776 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Branchiootic syndrome 1
RS2537276188 TYRP1 Health Risk Pathogenic —
RS2537276269 TYRP1 Health Risk Pathogenic —
RS2537276482 TYRP1 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR
RS2537277627 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS2537278093 SMARCA2 Health Risk Conflicting classifications of pathogenicity Blepharophimosis-impaired intellectual development syndrome, Blepharophimosis-impaired intellectual development syndrome
RS2537279998 TYRP1 Health Risk Pathogenic —
RS2537280344 TYRP1 Health Risk Pathogenic —
RS2537280352 EYA1 Health Risk Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2537283301 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537283697 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537283743 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537284365 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2537284941 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS2537284977 TYRP1 Health Risk Pathogenic —
RS2537288712 TYRP1 Health Risk Pathogenic —
RS2537289969 WASHC5 Health Risk Likely pathogenic Ritscher-Schinzel syndrome 1, Ritscher-Schinzel syndrome 1
RS2537292932 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS2537293281 TYRP1 Health Risk Likely pathogenic —
RS2537293282 TYRP1 Health Risk Likely pathogenic —
RS2537295426 RAD21 Health Risk Likely pathogenic RAD21-related disorder, RAD21-related disorder
RS2537296864 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with nail dystrophy
RS2537297433 EYA1 Health Risk Pathogenic/Likely pathogenic Melnick-Fraser syndrome, EYA1-related disorder
RS2537297690 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS2537297705 EYA1 Health Risk Pathogenic Branchiootorenal syndrome 1, Branchiootorenal syndrome 1
RS2537297841 RAD21 Health Risk Likely pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS2537299235 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS2537299697 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537300033 KIF1A Health Risk Pathogenic Intellectual disability, autosomal dominant 9
RS2537300215 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2537300700 PLEC Health Risk Likely pathogenic —
RS2537306012 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS2537310121 SMARCA2 Health Risk Likely pathogenic Blepharophimosis-impaired intellectual development syndrome, Blepharophimosis-impaired intellectual development syndrome
RS2537313097 GPAA1 Health Risk Likely pathogenic —
RS2537313187 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS2537314001 GPAA1 Health Risk Pathogenic —
RS2537315172 GPAA1 Health Risk Pathogenic/Likely pathogenic —
RS2537316091 GPAA1 Health Risk Pathogenic —
RS2537316101 GPAA1 Health Risk Likely pathogenic —
RS2537316260 GPAA1 Health Risk Pathogenic —
RS2537331772 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS2537335758 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2537336180 SMARCA2 Health Risk Conflicting classifications of pathogenicity —
RS2537344137 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS2537344600 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS2537347486 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS2537347573 SMARCA2 Health Risk Likely pathogenic Blepharophimosis-impaired intellectual development syndrome, Blepharophimosis-impaired intellectual development syndrome
RS2537350339 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS2537351091 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537351314 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537351663 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537351958 SYNGAP1 Health Risk Pathogenic —
RS2537352053 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537363604 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS2537368449 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
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