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
RS2552191544 UBE3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2552191598 UBE3A Health Risk Pathogenic —
RS2552191684 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2552191711 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2552191754 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2552191771 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2552191808 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS2552192047 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552192216 BRCA1 Health Risk Pathogenic —
RS2552192235 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552192281 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2552192333 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552192456 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552192485 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552192520 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552192660 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552192665 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552192687 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552192943 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552193014 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS2552193036 UBE3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2552193075 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2552193244 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2552193481 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2552193689 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552193713 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552193781 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552193822 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552193928 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2552193952 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552194047 BRCA1 Health Risk Pathogenic —
RS2552194079 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552194237 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2552194244 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552194255 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552194256 NEB Health Risk Pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552194328 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552194490 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552194667 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552194698 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552194827 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552195075 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552195317 NEB Health Risk Pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552195514 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552195584 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2552195617 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2552195752 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552195778 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2552195784 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552195829 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552195896 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2552195963 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552196136 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552196144 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552196404 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2552196923 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552196960 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552197172 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552197446 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552197452 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552197578 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552198082 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552198126 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552198575 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552198816 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552198877 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552198905 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552198952 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552199118 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552199261 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552199435 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552199592 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552199655 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552199752 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552199770 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552199954 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552200134 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552200187 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552200242 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2552200470 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552200713 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552200744 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2552201322 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552201470 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552201554 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552201614 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552202280 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2552202616 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552203155 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552203224 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2552203316 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552206364 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552206424 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552206445 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552207548 NEB Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS2552207591 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552207753 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2552208262 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552208265 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552208321 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
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