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
RS1060499983 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1060499984 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1060499986 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS1060499987 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1060499988 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1060499990 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS1060499991 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1060499992 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1060499993 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1060499994 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1060499995 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1060499997 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1060499999 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Ovarian serous cystadenocarcinoma
RS1060500001 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1060500009 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1060500012 CDC73 Health Risk Likely pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1060500014 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1060500015 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1060500019 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1060500020 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1060500034 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1060500039 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1060500044 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1060500046 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1060500053 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Short QT syndrome type 3
RS1060500091 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1060500092 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1060500098 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1060500101 MAX Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1060500103 HCN4 Health Risk Likely pathogenic Brugada syndrome 8, Brugada syndrome 8
RS1060500107 HCN4 Health Risk Likely pathogenic Brugada syndrome 8, HCN4-related disorder
RS1060500110 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1060500113 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1060500114 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1060500115 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1060500116 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1060500118 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1060500121 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1060500122 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1060500123 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS1060500124 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1060500125 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1060500126 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1060500128 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1060500134 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS1060500135 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS1060500137 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1060500142 RYR2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1060500150 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1060500156 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1060500168 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2
RS1060500169 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RS1060500186 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1060500187 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1060500193 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1060500194 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1060500195 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1060500199 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1060500200 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1060500203 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1060500204 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1060500214 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1060500225 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1060500231 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1060500242 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500243 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500244 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500245 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500246 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500250 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500252 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500253 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1060500254 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1060500255 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500262 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500263 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500266 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1060500268 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500269 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500270 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500271 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500273 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500274 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1060500276 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1060500278 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500280 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500281 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1060500284 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500286 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500287 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1060500288 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500291 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500292 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500294 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500295 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1060500296 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1060500297 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1060500298 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1060500299 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060500300 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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