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
RS2517804907 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2517805000 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2517805015 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2517805212 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517805482 CHEK2 Health Risk Pathogenic Familial cancer of breast, CHEK2-related disorder
RS2517805526 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2517805607 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2517805750 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2517805940 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517806117 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517806379 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517806508 CHEK2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2517806728 EP300 Health Risk Pathogenic EP300-related disorder, EP300-related disorder
RS2517807410 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517807773 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517809138 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517809373 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2517810869 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517810925 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517813357 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517815239 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517817656 EP300 Health Risk Conflicting classifications of pathogenicity Menke-Hennekam syndrome 2, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517817714 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517817737 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Menke-Hennekam syndrome 2
RS2517819834 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517819927 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2517819962 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517820275 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517820433 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517820514 EP300 Health Risk Likely pathogenic —
RS2517820784 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517821051 EP300 Health Risk Likely pathogenic EP300-related disorder, EP300-related disorder
RS2517821059 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517821124 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517821333 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517821663 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517821894 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517822167 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517822266 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517822468 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517822614 EP300 Health Risk Pathogenic —
RS2517823002 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2517823703 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517823890 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517824218 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517824372 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517825283 COL18A1 Health Risk Likely pathogenic —
RS2517826070 FHOD3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial hypertrophic
RS2517826809 COL18A1 Health Risk Likely pathogenic —
RS2517826886 EP300 Health Risk Likely pathogenic EP300-related disorder, EP300-related disorder
RS2517826930 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517829457 IFT27 Health Risk Pathogenic —
RS2517831169 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517832142 EP300 Health Risk Likely pathogenic EP300-related disorder, EP300-related disorder
RS2517832657 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517833003 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517833527 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517833590 EP300;EP300-AS1 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome
RS2517833597 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517833741 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517834195 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517834474 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517834553 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517834847 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517835014 EP300 Health Risk Likely pathogenic —
RS2517835495 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517835557 EP300 Health Risk Pathogenic See cases, See cases
RS2517835875 IL2RB Health Risk Likely pathogenic —
RS2517835887 IL2RB Health Risk Likely pathogenic —
RS2517836259 PCNT Health Risk Pathogenic —
RS2517838673 IL2RB Health Risk Pathogenic —
RS2517841942 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS2517842289 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS2517843174 TBX1 Health Risk Likely pathogenic Tetralogy of Fallot, DiGeorge syndrome
RS2517844908 IL2RB Health Risk Likely pathogenic —
RS2517845076 IL2RB Health Risk Pathogenic —
RS2517846376 COL18A1 Health Risk Pathogenic —
RS2517846710 COL18A1;SLC19A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS2517846853 COL18A1;SLC19A1 Health Risk Likely pathogenic —
RS2517847154 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517847375 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517847616 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517847905 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517847956 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517848216 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517848333 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517848388 COL18A1 Health Risk Pathogenic —
RS2517849270 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517849432 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517849988 TBX1 Health Risk Likely pathogenic —
RS2517850607 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517851001 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517852372 TBX1 Health Risk Likely pathogenic TBX1-related disorder, TBX1-related disorder
RS2517855328 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS2517855397 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS2517855846 COL18A1 Health Risk Pathogenic —
RS2517856761 COL18A1 Health Risk Pathogenic —
RS2517857101 CRYBB2 Health Risk Likely pathogenic Cataract 3 multiple types, Cataract 3 multiple types
RS2517857761 COL18A1 Health Risk Pathogenic —
RS2517857892 COL18A1 Health Risk Pathogenic —
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