SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS879255239 MKRN3 Health Risk Pathogenic Precocious puberty, central
RS879255240 MKRN3 Health Risk Pathogenic Precocious puberty, central
RS879255241 B4GALNT1 Health Risk Pathogenic Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26
RS879255242 B4GALNT1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26
RS879255243 GRHL3 Health Risk Pathogenic Van der Woude syndrome 2, Van der Woude syndrome 2
RS879255244 GRHL3 Health Risk Pathogenic Van der Woude syndrome 2, Van der Woude syndrome 2
RS879255245 GRHL3 Health Risk Pathogenic/Likely pathogenic Van der Woude syndrome 2, Van der Woude syndrome 2
RS879255246 OTOF Health Risk Pathogenic Hearing loss, autosomal recessive
RS879255247 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, Neurodevelopmental disorder
RS879255248 LONP1 Health Risk Pathogenic CODAS syndrome, CODAS syndrome
RS879255249 LONP1 Health Risk Pathogenic CODAS syndrome, CODAS syndrome
RS879255251 CRB2 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 9, Steroid-resistant nephrotic syndrome
RS879255252 CRB2 Health Risk Pathogenic Focal segmental glomerulosclerosis 9, Focal segmental glomerulosclerosis 9
RS879255253 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS879255254 MYH2 Health Risk Pathogenic Myopathy, proximal
RS879255255 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS879255257 NPR2 Health Risk Pathogenic/Likely pathogenic Short stature with nonspecific skeletal abnormalities, Acromesomelic dysplasia 1
RS879255258 XRCC4 Health Risk Pathogenic Short stature, microcephaly
RS879255259 XRCC4 Health Risk Likely pathogenic Short stature, microcephaly
RS879255260 PLEC Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS879255261 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS879255262 LPAR6 Health Risk Likely pathogenic Hypotrichosis 8, Hypotrichosis 8
RS879255263 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS879255264 MEIS2 Health Risk Pathogenic/Likely pathogenic Cardiac malformation, cleft lip/palate
RS879255265 HOXD13 Health Risk Pathogenic Synpolydactyly type 1, Synpolydactyly type 1
RS879255266 LAMB1 Health Risk Pathogenic Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS879255267 LAMB1 Health Risk Pathogenic Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS879255268 SRC Health Risk Likely pathogenic Thrombocytopenia 6, Osteoporosis
RS879255269 B3GAT3 Health Risk Pathogenic MULTIPLE JOINT DISLOCATIONS, SHORT STATURE
RS879255270 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS879255271 TCF3 Health Risk Pathogenic Agammaglobulinemia 8, autosomal dominant
RS879255272 ELANE Health Risk Pathogenic —
RS879255273 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS879255274 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS879255275 MAFB Health Risk Pathogenic Duane retraction syndrome 3 with or without deafness, Duane retraction syndrome 2
RS879255276 MAFB Health Risk Pathogenic Duane retraction syndrome 2, Duane syndrome type 1
RS879255277 MAFB Health Risk Pathogenic Duane retraction syndrome 2, Duane syndrome type 1
RS879255278 PRDM6 Health Risk Pathogenic Patent ductus arteriosus 3, Patent ductus arteriosus 3
RS879255279 PRDM6 Health Risk Pathogenic Patent ductus arteriosus 3, Patent ductus arteriosus 3
RS879255280 SMO Health Risk Pathogenic Curry-Jones syndrome, Meningioma
RS879255281 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255282 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255283 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255286 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255287 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255288 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255289 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255290 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255291 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS879255293 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255294 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255295 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255298 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255299 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255300 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255301 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255302 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS879255303 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255306 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255308 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255309 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast neoplasm
RS879255310 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255311 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255312 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255313 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255314 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255315 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS879255316 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255317 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS879255318 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255319 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS879255320 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS879255321 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255322 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS879255323 BRCA2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS879255325 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS879255326 BRCA2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS879255327 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS879255328 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS879255329 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255331 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255332 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255333 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255336 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS879255339 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS879255341 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS879255348 NR3C2 Health Risk Pathogenic Pseudohypoaldosteronism, Pseudohypoaldosteronism
RS879255361 ZMYM3 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, X-linked 112
RS879255362 ZC4H2 Health Risk Likely pathogenic —
RS879255368 ATP1A3 Health Risk Pathogenic/Likely pathogenic Hemiplegia, Delayed speech and language development
RS879255373 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS879255381 CREBBP Health Risk Pathogenic/Likely pathogenic Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome
RS879255389 CACNA1F Health Risk Pathogenic —
RS879255390 PURA Health Risk Pathogenic —
RS879255392 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS879255393 PRKCD Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS879255396 AP4B1 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 47
RS879255397 AP4B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS879255403 ZNF292 Health Risk Conflicting classifications of pathogenicity —
RS879255404 POGZ Health Risk Pathogenic/Likely pathogenic See cases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
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