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
RS2153940785 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153940927 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153942439 ANK2 Health Risk Pathogenic ANK2-associated Neurodevelopmental Disorder, Cardiac arrhythmia
RS2153953739 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153957684 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153959601 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153960091 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153960110 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153960473 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153960539 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153960638 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153960793 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153969039 SYNE1 Health Risk Pathogenic —
RS2153970781 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2153971833 SYNE1 Health Risk Pathogenic —
RS2153972237 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153972327 NEB Health Risk Pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2153987675 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153991069 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2153991555 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2153991581 NEB Health Risk Pathogenic —
RS2153992255 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153992821 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2153993720 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153994981 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2153994995 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2153995016 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2153995212 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2153996775 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2153996908 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2153997235 CSGALNACT1 Health Risk Pathogenic —
RS2153997899 BRCA1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2153997913 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2153998408 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2153999602 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2154000018 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2154000188 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2154000189 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2154000325 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2154000546 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2154000550 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2154001364 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2154006279 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2154006573 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2154006724 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2154006948 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2154007211 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2154008611 IGHMBP2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2154008642 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2154008646 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2154008651 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2154008654 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1
RS2154008712 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1
RS2154008855 IGHMBP2 Health Risk Pathogenic —
RS2154008868 IGHMBP2 Health Risk Likely pathogenic —
RS2154008953 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2154009273 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2154015072 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2154018964 SYNE1 Health Risk Pathogenic —
RS2154019221 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2154019523 ANK2 Health Risk Likely pathogenic —
RS2154020080 BRCA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2154021596 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2154021907 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2154022757 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154024242 BRCA1 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2154024936 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2154027821 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154031263 ANK2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2154034211 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2154034292 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2154034622 CLN5 Health Risk Pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2154034636 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2154034716 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2154034738 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS2154035107 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2154035111 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2154035131 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2154035159 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2154035166 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2154035183 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2154035196 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2154035202 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS2154035204 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2154035941 FBXL3 Health Risk Pathogenic Intellectual disability, short stature
RS2154044401 SYNE1 Health Risk Pathogenic —
RS2154056714 BRCA1 Health Risk Pathogenic —
RS2154058114 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2154058477 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2154059325 BRCA1 Health Risk Pathogenic Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS2154059426 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2154062615 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2154066387 ANK2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2154071377 WNK1 Health Risk Pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
RS2154071399 WNK1 Health Risk Pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
RS2154071927 WNK1 Health Risk Pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
RS2154071932 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2154072041 WNK1 Health Risk Pathogenic —
RS2154072180 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2154072959 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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