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
RS1060502185 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1060502186 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1060502187 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1060502188 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1060502189 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1060502190 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1060502202 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1060502204 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1060502210 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1060502211 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1060502214 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1060502215 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1060502216 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS1060502224 CYP7B1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Congenital bile acid synthesis defect 3
RS1060502226 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1060502227 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Pes valgus
RS1060502228 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, SPAST-related disorder
RS1060502229 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1060502230 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1060502231 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1060502233 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1060502236 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1060502238 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1060502242 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1060502245 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1060502246 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1060502248 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1060502249 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1060502250 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1060502255 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1060502258 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1060502259 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1060502264 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502265 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502266 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502268 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502271 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502273 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502274 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502277 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell carcinoma
RS1060502278 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502279 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502280 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502281 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502282 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502284 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502285 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502286 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Holoprosencephaly 7
RS1060502287 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502290 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502291 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502292 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502294 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502295 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502297 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502298 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1060502301 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1060502302 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1060502303 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1060502305 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1060502306 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1060502318 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, CAV3-related disorder
RS1060502324 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502325 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502327 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502328 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502329 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502330 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502331 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1060502332 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502333 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502334 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502336 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502340 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502341 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502342 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502343 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502344 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502345 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502347 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502348 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502349 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502350 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502351 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502352 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502353 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502354 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502355 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1060502356 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1060502357 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502359 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502360 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502361 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502362 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1060502363 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502364 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502365 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1060502367 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1060502368 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1060502369 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
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