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
RS1555910140 SHANK3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555910143 SHANK3 Health Risk Pathogenic/Likely pathogenic SHANK3-related disorder, Autism spectrum disorder
RS1555910162 SHANK3 Health Risk Pathogenic Psychotic disorder, Moderate global developmental delay
RS1555910178 SHANK3 Health Risk Pathogenic —
RS1555910182 SHANK3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555910193 SHANK3 Health Risk Likely pathogenic —
RS1555910212 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS1555910299 SHANK3 Health Risk Pathogenic —
RS1555910304 SHANK3 Health Risk Pathogenic —
RS1555910482 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555910602 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555910687 ARSL Health Risk Pathogenic —
RS1555910814 EP300 Health Risk Pathogenic —
RS1555910821 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Intellectual disability
RS1555910895 SHANK3 Health Risk Likely pathogenic —
RS1555910944 SHANK3 Health Risk Pathogenic —
RS1555910948 SHANK3 Health Risk Likely pathogenic —
RS1555911075 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555911098 EP300 Health Risk Pathogenic Inborn genetic diseases, Uterine corpus endometrial carcinoma
RS1555911201 EP300 Health Risk Pathogenic —
RS1555911313 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Inborn genetic diseases
RS1555911316 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555911334 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555911496 ASXL1 Health Risk Pathogenic —
RS1555911508 ASXL1 Health Risk Pathogenic —
RS1555911515 ASXL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555911522 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555911574 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Lung cancer
RS1555911580 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555911635 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555911636 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555911638 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555911640 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555911685 TSPEAR Health Risk Pathogenic —
RS1555912001 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555912010 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555912017 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555912040 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555912044 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555912049 PTCHD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555912060 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555912102 PTCHD1 Health Risk Likely pathogenic Autism, susceptibility to
RS1555912107 EP300 Health Risk Likely pathogenic —
RS1555912112 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555912238 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555912285 ASXL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555912296 ASXL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555912302 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1555912362 EP300 Health Risk Likely pathogenic —
RS1555912392 ASXL1 Health Risk Likely pathogenic —
RS1555912419 ASXL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555912648 ASXL1 Health Risk Pathogenic ASXL1-related disorder, ASXL1-related disorder
RS1555912699 PTCHD1 Health Risk Likely pathogenic —
RS1555912709 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1555912737 PTCHD1 Health Risk Likely pathogenic —
RS1555912897 ASXL1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Bohring-Opitz syndrome
RS1555912930 ASXL1 Health Risk Pathogenic —
RS1555912974 ASXL1 Health Risk Likely pathogenic —
RS1555913067 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555913078 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555913094 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555913106 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555913161 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555913327 BCOR Health Risk Likely pathogenic —
RS1555913410 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555913429 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555913464 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555913484 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555913493 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555913494 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555913631 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555913632 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555913640 NLGN4X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555913645 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555913672 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555913881 CHEK2 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS1555913894 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555913934 CHEK2 Health Risk Pathogenic Nephroblastoma, Nephroblastoma
RS1555913941 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555913946 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555914279 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555914303 GPR143 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555914369 TSPEAR Health Risk Likely pathogenic —
RS1555914382 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555914393 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555914806 DEPDC5 Health Risk Likely pathogenic —
RS1555914825 TSPEAR Health Risk Pathogenic —
RS1555914867 TSPEAR Health Risk Pathogenic —
RS1555915295 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555915298 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555915392 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555915409 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555915433 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555915491 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555915533 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555915589 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555915744 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1555915763 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, BCOR-related disorder
RS1555915785 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1555915852 BCOR Health Risk Pathogenic —
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