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
RS2547613531 ITGB3 Health Risk Pathogenic/Likely pathogenic Glanzmann thrombasthenia 2, Glanzmann thrombasthenia 2
RS2547613559 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547613560 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547613593 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547613856 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547615939 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547616302 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547616779 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547616812 ITGB3 Health Risk Pathogenic —
RS2547616850 ITGB3 Health Risk Pathogenic —
RS2547617042 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547617068 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547617833 ITGB3 Health Risk Likely pathogenic —
RS2547618014 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547618020 ITGB3 Health Risk Pathogenic —
RS2547618403 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547618981 ITGB3 Health Risk Likely pathogenic —
RS2547619081 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547619090 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547619255 ITGB3 Health Risk Pathogenic —
RS2547621015 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia 2, Glanzmann thrombasthenia 2
RS2547621029 ITGB3 Health Risk Likely pathogenic —
RS2547621050 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia 2, Glanzmann thrombasthenia 2
RS2547621060 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547621110 ITGB3 Health Risk Pathogenic —
RS2547621638 ITGB3 Health Risk Pathogenic —
RS2547623734 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547623783 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547623841 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2547623844 ITGB3 Health Risk Conflicting classifications of pathogenicity Glanzmann thrombasthenia 2, Glanzmann thrombasthenia 2
RS2547624796 PCDH15 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2547626863 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547626897 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2547627436 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547628344 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547628381 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547628568 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547629434 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547641868 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2547643971 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2547644949 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547645010 MIPEP Health Risk Likely pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS2547645490 ATP7B Health Risk Likely pathogenic —
RS2547645550 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547645844 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547646107 KDM2B Health Risk Pathogenic —
RS2547646291 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547646511 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547646750 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547646817 ATP7B Health Risk Likely pathogenic —
RS2547647055 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547647062 KDM2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2547647636 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547647866 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547647906 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547647921 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547651122 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2547653183 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2547654457 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2547657751 ARID2 Health Risk Likely pathogenic ARID2-related disorder, ARID2-related disorder
RS2547658294 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2547658386 SYT1 Health Risk Likely pathogenic Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS2547659152 ARID2 Health Risk Pathogenic —
RS2547661677 ARID2 Health Risk Pathogenic —
RS2547662010 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2547663091 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2547665922 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547667199 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547667619 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2547669800 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2547670195 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547670422 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547671027 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547671469 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547673500 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547673737 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547673846 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547674026 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS2547674050 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547674219 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547674422 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547674495 CPLANE1 Health Risk Pathogenic —
RS2547674600 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547674633 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547675613 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2547675847 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2547677183 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547677239 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547677906 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2547681876 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547682660 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547684126 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547684184 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547684330 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547684822 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547685234 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2547686280 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2547686392 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2547686641 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547686901 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
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