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
RS2150746934 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150748709 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150748728 ASPA Health Risk Pathogenic/Likely pathogenic Mild Canavan disease, Spongy degeneration of central nervous system
RS2150748939 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150749363 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150749475 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150750057 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2150750132 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2150750228 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150751795 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS2150751821 FGFR1 Health Risk Likely pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150752540 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150752695 CHD7 Health Risk Pathogenic —
RS2150754040 EPB41 Health Risk Likely pathogenic Elliptocytosis 1, Elliptocytosis 1
RS2150754427 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS2150755088 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150755633 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150757205 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS2150758220 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150761067 CHD7 Health Risk Likely pathogenic —
RS2150761158 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS2150762300 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150764080 ASPA Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150764223 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150764241 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150764574 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2150764898 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150765100 CHD7 Health Risk Likely pathogenic —
RS2150766539 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Orofaciodigital syndrome type 6
RS2150772043 TAOK1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150772064 TAOK1 Health Risk Likely pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2150772089 TAOK1 Health Risk Pathogenic —
RS2150773718 COL4A4 Health Risk Likely pathogenic —
RS2150774757 TAOK1 Health Risk Pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2150774814 TAOK1 Health Risk Pathogenic —
RS2150774822 TAOK1 Health Risk Pathogenic —
RS2150775947 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150776380 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS2150776534 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS2150776793 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS2150776824 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150776997 CHD7 Health Risk Pathogenic —
RS2150777148 CHD7 Health Risk Pathogenic CHD7 disorder, CHD7 disorder
RS2150777291 CHD7 Health Risk Pathogenic —
RS2150777403 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150777611 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150777620 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150777933 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS2150778065 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150778293 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150778741 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150778921 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150779172 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS2150779252 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150779267 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150779357 CHD7 Health Risk Conflicting classifications of pathogenicity CHD7-related disorder, CHD7-related disorder
RS2150779549 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150785723 LTBP1 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS2150785999 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150786107 CHD7 Health Risk Pathogenic —
RS2150786214 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150786530 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150787516 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2150788209 COL4A4 Health Risk Pathogenic —
RS2150788345 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS2150792975 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150793053 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150793143 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150793887 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2150793962 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2150793975 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150794309 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2150794687 COL4A4 Health Risk Likely pathogenic —
RS2150795233 RBL2 Health Risk Likely pathogenic Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
RS2150801705 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150804625 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150805456 COL4A4 Health Risk Pathogenic COL4A4-related disorder, COL4A4-related disorder
RS2150805748 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150805752 COL4A4 Health Risk Likely pathogenic —
RS2150805872 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS2150806303 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150807513 CHD7 Health Risk Pathogenic —
RS2150808082 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150808631 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150808654 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150808670 NOD2 Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 1, Blau syndrome
RS2150808678 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150808685 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150809140 CHD7 Health Risk Pathogenic —
RS2150809777 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS2150809927 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS2150810705 NOD2 Health Risk Likely pathogenic Blau syndrome, Blau syndrome
RS2150810800 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150810874 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS2150811163 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150811416 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150811446 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150811696 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome
RS2150813223 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150816107 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
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