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
RS2030444679 L2HGDH Health Risk Likely pathogenic L-2-hydroxyglutaric aciduria, Abnormality of metabolism/homeostasis
RS2030528716 USH2A Health Risk Pathogenic —
RS2030617696 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2030619513 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2A
RS2030621345 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2030687889 TAOK1 Health Risk Pathogenic/Likely pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2030755066 SLC40A1 Health Risk Pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS2030770130 ACE Health Risk Pathogenic —
RS2030785010 SMARCB1 Health Risk Likely pathogenic —
RS2030789446 SMARCB1 Health Risk Pathogenic —
RS2030790572 SMARCB1 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 1, SMARCB1-related disorder
RS2030801584 AIFM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked mitochondrial encephalomyopathy, Combined oxidative phosphorylation deficiency
RS2030965698 TOR1A Health Risk Pathogenic Arthrogryposis multiplex congenita 5, Arthrogryposis multiplex congenita 5
RS2030976698 TAOK1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2030989355 TAOK1 Health Risk Likely pathogenic Inborn genetic diseases, DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
RS2031075939 CYP19A1 Health Risk Pathogenic/Likely pathogenic Aromatase deficiency, Aromatase excess syndrome
RS2031080312 TAOK1 Health Risk Pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2031089646 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2031121154 HSF4 Health Risk Likely pathogenic HSF4-related disorder, HSF4-related disorder
RS2031257693 PET100 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 12
RS2031258865 PET100 Health Risk Pathogenic —
RS2031334549 NONO Health Risk Likely pathogenic Heart, malformation of
RS2031389522 NONO Health Risk Pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS2031394526 ATR Health Risk Pathogenic —
RS2031437544 TPM1 Health Risk Likely pathogenic Cardiomyopathy, TPM1-related disorder
RS2031445986 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS2031447940 PPM1D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2031449441 PPM1D Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2031451980 KIZ Health Risk Pathogenic Retinitis pigmentosa 69, Retinitis pigmentosa 69
RS2031456898 NONO Health Risk Likely pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS2031508845 NONO Health Risk Likely pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS2031551111 PPM1D Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2031551420 PPM1D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2031551570 PPM1D Health Risk Likely pathogenic —
RS2031551625 PPM1D Health Risk Pathogenic —
RS2031551741 PPM1D Health Risk Pathogenic —
RS2031551825 PPM1D Health Risk Pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2031551927 PPM1D Health Risk Pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2031554958 PPM1D Health Risk Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2031555258 PPM1D Health Risk Pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2031562776 PPM1D Health Risk Likely pathogenic —
RS2031564242 PPM1D Health Risk Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2031604509 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS2031609360 USH2A Health Risk Pathogenic —
RS2031617950 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2031620246 USH2A Health Risk Pathogenic —
RS2031623445 USH2A Health Risk Pathogenic —
RS2031759596 ACTG1 Health Risk Pathogenic Baraitser-winter syndrome 2, Microcephaly
RS2031770749 ACTG1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20
RS2031775804 ACTG1 Health Risk Likely pathogenic Baraitser-winter syndrome 2, Baraitser-winter syndrome 2
RS2031777349 TRPM1 Health Risk Pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS2031815415 USH2A Health Risk Pathogenic —
RS2031844309 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2031853048 TPM1 Health Risk Likely pathogenic —
RS2031855864 ACTG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ACTG1-related disorder
RS2031863455 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS2031907358 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2031929480 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2031930307 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2031931706 ADAMTS17 Health Risk Likely pathogenic —
RS2031932785 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2031934299 TAOK1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2031936282 TAOK1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2031953051 DNMT3A Health Risk Likely pathogenic —
RS2031967126 THRB Health Risk Likely pathogenic —
RS2031982524 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2032004082 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2032018454 USH2A Health Risk Pathogenic —
RS2032019895 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2032068125 USH2A Health Risk Pathogenic —
RS2032072206 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2032074764 USH2A Health Risk Pathogenic —
RS2032078984 ERCC4 Health Risk Pathogenic —
RS2032088471 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2032092446 RAI1 Health Risk Pathogenic —
RS2032102818 RAI1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2032103883 RAI1 Health Risk Likely pathogenic —
RS2032105178 RAI1 Health Risk Pathogenic RAI1-related disorder, RAI1-related disorder
RS2032120646 RAI1 Health Risk Pathogenic —
RS2032121558 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2032146977 RAI1 Health Risk Pathogenic —
RS2032147505 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2032148329 LOXHD1 Health Risk Likely pathogenic —
RS2032151441 RAI1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2032155264 ERCC4 Health Risk Pathogenic Cockayne syndrome, Fanconi anemia complementation group Q
RS2032158187 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS2032164364 LOXHD1 Health Risk Pathogenic —
RS2032172594 RAI1 Health Risk Likely pathogenic Intellectual disability, Smith-Magenis syndrome
RS2032173863 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2032173917 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2032190831 TRIP12 Health Risk Likely pathogenic —
RS2032191781 KIZ Health Risk Pathogenic —
RS2032191929 RAI1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Smith-Magenis syndrome
RS2032195039 KIZ Health Risk Pathogenic —
RS2032214426 TRIP12 Health Risk Conflicting classifications of pathogenicity Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2032220637 USH2A Health Risk Pathogenic —
RS2032220940 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2032221370 USH2A Health Risk Likely pathogenic —
RS2032221850 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2032234525 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
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