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
RS2545903700 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545903733 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545903771 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545904183 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545904210 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545905243 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545909115 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545910776 H3-3B Health Risk Likely pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2
RS2545911125 H3-3B Health Risk Likely pathogenic —
RS2545911172 H3-3B Health Risk Pathogenic/Likely pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2
RS2545911185 H3-3B Health Risk Likely pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2
RS2545930144 ARL2BP Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa with or without situs inversus
RS2545932661 ARL2BP Health Risk Pathogenic —
RS2545940726 SPEG Health Risk Pathogenic —
RS2545942402 SPEG Health Risk Pathogenic —
RS2545945941 SPEG Health Risk Likely pathogenic Myopathy, centronuclear
RS2545948848 TRIM37 Health Risk Likely pathogenic —
RS2545969608 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2545970508 TPO Health Risk Pathogenic —
RS2545974345 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545974359 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545975129 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545975170 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545976434 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545976468 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545976906 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545976911 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545976918 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545976957 KANK4 Health Risk Conflicting classifications of pathogenicity —
RS2545977102 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545977596 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545977782 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545977792 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545978868 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545979720 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545980063 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545980087 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545980665 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545981234 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545981250 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545981285 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545981358 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545981626 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545981838 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545982383 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545982718 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545982922 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545984867 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545984930 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545985023 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545985344 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545985543 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS2545985776 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545986584 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545987244 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545987351 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis
RS2545987693 TPO Health Risk Pathogenic —
RS2545987854 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545988044 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545988081 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545988129 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545988136 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545988159 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545988497 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2545988788 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545988951 TPO Health Risk Pathogenic —
RS2545988991 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545989100 TPO Health Risk Pathogenic —
RS2545989114 TPO Health Risk Pathogenic —
RS2545994358 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2546004155 SPEG Health Risk Pathogenic —
RS2546008115 SPEG Health Risk Pathogenic —
RS2546012087 PLK4 Health Risk Pathogenic —
RS2546012274 GPR156 Health Risk Likely pathogenic Hearing loss, autosomal recessive 121
RS2546012393 PLK4 Health Risk Pathogenic —
RS2546012451 GPR156 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive
RS2546012542 PLK4 Health Risk Pathogenic —
RS2546013620 PLK4 Health Risk Pathogenic —
RS2546013773 PLK4 Health Risk Likely pathogenic Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2
RS2546014238 TLK2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 57
RS2546018442 PLK4 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2
RS2546023288 SPEG Health Risk Pathogenic —
RS2546024676 PLK4 Health Risk Likely pathogenic —
RS2546024862 PLK4 Health Risk Pathogenic —
RS2546025428 TLK2 Health Risk Pathogenic —
RS2546025747 TLK2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 57
RS2546026570 PLK4 Health Risk Likely pathogenic —
RS2546027160 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2546027223 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2546034994 SPEG Health Risk Likely pathogenic —
RS2546042714 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546046014 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546046108 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546046258 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2546046402 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2546046409 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2546046501 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS2546046585 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2546046684 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546047302 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
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