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
RS1966940003 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1966945369 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1966952995 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966955447 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966956742 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966959467 PALB2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1966962812 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966964908 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1966967065 PALB2 Health Risk Likely pathogenic Malignant tumor of breast, Gastric cancer
RS1966967463 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966970790 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966971699 PALB2 Health Risk Pathogenic —
RS1966974831 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966977995 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966979701 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1966981959 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966983494 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966986126 PALB2 Health Risk Pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS1966988658 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966989564 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966999709 PALB2 Health Risk Pathogenic —
RS1967001584 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1967002076 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967002667 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1967007854 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PALB2-related disorder
RS1967009067 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1967011347 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1967016153 PALB2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1967021173 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967023129 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967023691 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967026821 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967027806 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1967028249 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967028555 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1967030083 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967031858 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1967036024 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1967036891 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1967037000 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1967037502 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1967038226 PALB2 Health Risk Pathogenic —
RS1967038738 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1967048357 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967055062 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967055393 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1967056795 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967057228 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1967057527 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967061407 PALB2 Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Familial cancer of breast
RS1967098495 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1967100637 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967104136 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1967112121 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
RS1967113249 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1967113484 PALB2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1967149532 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1967157292 CEBPA Health Risk Pathogenic —
RS1967162270 CEBPA Health Risk Likely pathogenic —
RS1967162464 CEBPA Health Risk Pathogenic —
RS1967162539 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Acute myeloid leukemia
RS1967165458 CEBPA Health Risk Likely pathogenic —
RS1967171093 CEBPA Health Risk Likely pathogenic —
RS1967174141 CEBPA Health Risk Likely pathogenic —
RS1967174429 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1967177805 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1967184344 CEBPA Health Risk Pathogenic —
RS1967184550 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1967187396 CEBPA Health Risk Pathogenic —
RS1967187823 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1967191835 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1967192886 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1967194243 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1967194538 CEBPA Health Risk Likely pathogenic —
RS1967195766 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1967195832 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1967197402 CEBPA Health Risk Pathogenic —
RS1967199149 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1967202251 CEBPA Health Risk Pathogenic —
RS1967232172 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1967234587 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1967312678 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1967312937 LOC129391106;RYR1 Health Risk Pathogenic —
RS1967329033 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1967335085 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1967488222 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS1967510088 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1967512180 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1967521908 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1967551 DRD5 Health Risk Conflicting classifications of pathogenicity Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder
RS1967571311 C3 Health Risk Pathogenic —
RS1967600281 RYR1 Health Risk Likely pathogenic Hydrops fetalis, Hydrops fetalis
RS1967603354 RYR1 Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy with fiber type disproportion
RS1967737959 NOVA2 Health Risk Pathogenic Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
RS1967739365 NOVA2 Health Risk Pathogenic Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
RS1967741386 NOVA2 Health Risk Pathogenic Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
RS1967741450 NOVA2 Health Risk Pathogenic Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
RS1967742137 NOVA2 Health Risk Pathogenic Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
RS1967766760 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS1967775472 INSR Health Risk Likely pathogenic Rabson-Mendenhall syndrome, Rabson-Mendenhall syndrome
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