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
RS587780986 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS587780987 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS587780988 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS587780992 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS587781011 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS587781028 MAP2K2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS587781035 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS587781037 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS587781089 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS587781092 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS587781096 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS587781101 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS587781112 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS587781116 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS587781122 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS587781146 SCN1A Health Risk Pathogenic —
RS587781152 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS587781156 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS587781159 SCN5A Health Risk Pathogenic Cardiac arrhythmia, Cardiovascular phenotype
RS587781161 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 1
RS587781167 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS587781169 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early-infantile DEE
RS587781171 SLC2A1 Health Risk Conflicting classifications of pathogenicity Encephalopathy due to GLUT1 deficiency, Dystonia 9
RS587781173 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS587781176 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS587781179 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS587781180 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS587781185 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS587781190 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781191 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781192 UBE3A Health Risk Pathogenic Angelman syndrome, Inborn genetic diseases
RS587781193 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781194 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781195 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781196 UBE3A Health Risk Pathogenic Angelman syndrome, Inborn genetic diseases
RS587781197 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781198 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781199 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781200 UBE3A Health Risk Pathogenic Angelman syndrome, UBE3A-related disorder
RS587781201 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781202 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781203 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781204 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781205 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781206 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781207 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781208 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781209 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781210 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781211 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781212 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781213 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781214 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781215 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781216 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781217 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781218 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781219 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781220 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781221 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781222 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781223 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781224 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781225 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781226 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781227 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781228 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781229 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781230 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781231 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781232 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781233 UBE3A Health Risk Likely pathogenic Angelman syndrome, Inborn genetic diseases
RS587781234 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS587781235 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781236 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781237 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781238 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781239 UBE3A Health Risk Pathogenic/Likely pathogenic Angelman syndrome, Inborn genetic diseases
RS587781240 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781241 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587781242 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS587781243 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS587781244 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS587781245 SASH1 Health Risk Pathogenic/Likely pathogenic dyschromatosis, Ungual dystrophy
RS587781246 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS587781250 HSPB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2F
RS587781253 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2O
RS587781255 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS587781256 RB1 Health Risk Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS587781257 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS587781258 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS587781259 NOTCH1 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS587781260 NLRC4 Health Risk Pathogenic Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4), Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS587781261 PRPS1 Health Risk Pathogenic Hearing loss, X-linked 1
RS587781262 PRPS1 Health Risk Pathogenic/Likely pathogenic Hearing loss, X-linked 1
RS587781263 PRPS1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth disease X-linked recessive 5
RS587781266 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Hereditary cancer-predisposing syndrome
RS587781269 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587781270 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS587781274 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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