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
RS1566148136 PUS1 Health Risk Pathogenic/Likely pathogenic Myopathy, lactic acidosis
RS1566150887 MVK Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS1566164987 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 1
RS1566167244 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1566168783 PTPN11 Health Risk Pathogenic —
RS1566169711 FREM2 Health Risk Pathogenic Fraser syndrome 2, Fraser syndrome 2
RS1566174063 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1566174065 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566174074 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566174147 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566186087 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566186125 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1566186813 PTPN11 Health Risk Likely pathogenic Noonan syndrome 1, Noonan syndrome 1
RS1566186833 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS1566186836 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1566186840 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566186889 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566187849 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1566187856 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1566188424 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS1566188475 MAB21L1 Health Risk Pathogenic Cerebellar, ocular
RS1566188524 MAB21L1 Health Risk Pathogenic Cerebellar, ocular
RS1566188537 MAB21L1 Health Risk Pathogenic Cerebellar, ocular
RS1566188955 MAB21L1 Health Risk Pathogenic Cerebellar, ocular
RS1566189161 MAB21L1 Health Risk Pathogenic Cerebellar, ocular
RS1566191596 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS1566192530 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1566192557 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566194323 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566194415 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1566196458 RB1 Health Risk Pathogenic Retinoblastoma, Malignant tumor of urinary bladder
RS1566197747 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566199059 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566199125 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1566212378 LPAR6 Health Risk Likely pathogenic Hypotrichosis 8, Hypotrichosis 8
RS1566215661 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1566215685 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1566215788 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1566215870 BRCA2 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1566215888 RCBTB1 Health Risk Pathogenic —
RS1566215948 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1566216059 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566218145 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1566218165 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566218217 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566219136 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1566219179 BRCA2 Health Risk Pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS1566219199 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1566219336 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1566219362 BRCA2 Health Risk Pathogenic Breast neoplasm, 8 conditions
RS1566220586 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1566221288 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1566221377 BRCA2 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1566221413 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1566222067 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566222098 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566222119 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566222250 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566222289 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1566222463 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566222487 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1566222524 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1566222581 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566222651 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1566222903 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566223012 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566223036 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566223138 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566223237 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566223261 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566223373 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566223455 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1566223465 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566223599 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566223650 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566223656 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1566223700 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1566223725 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1566223748 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1566223875 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566223912 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1566224045 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566224075 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1566224110 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566224153 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566224180 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566224242 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1566224246 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566224252 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566224293 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566224476 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566224496 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566224537 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566224551 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1566224604 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566225769 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566225794 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1566225847 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1566225872 FBXL3 Health Risk Pathogenic Intellectual disability, short stature
RS1566225927 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
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