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
RS121909215 TGFBI Health Risk Pathogenic Reis-Bucklers' corneal dystrophy, Reis-Bucklers' corneal dystrophy
RS121909216 TGFBI Health Risk Pathogenic Epithelial basement membrane dystrophy, Epithelial basement membrane dystrophy
RS121909217 TGFBI Health Risk Conflicting classifications of pathogenicity Epithelial basement membrane dystrophy, Corneal dystrophy
RS121909218 PTEN Health Risk Pathogenic/Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS121909219 PTEN Health Risk Pathogenic/Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS121909220 PTEN Health Risk Pathogenic Lhermitte-Duclos disease, PTEN hamartoma tumor syndrome
RS121909221 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS121909222 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS121909223 PTEN Health Risk Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS121909224 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, Cowden syndrome 1
RS121909225 PTEN Health Risk Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS121909226 PTEN Health Risk Conflicting classifications of pathogenicity Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS121909227 PTEN Health Risk Pathogenic Cowden syndrome 1, Macrocephaly-autism syndrome
RS121909228 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS121909229 PTEN Health Risk Pathogenic/Likely pathogenic Cowden syndrome 1, Hereditary cancer-predisposing syndrome
RS121909230 PTEN Health Risk Pathogenic Lhermitte-Duclos disease, Hereditary cancer-predisposing syndrome
RS121909231 PTEN Health Risk Pathogenic Proteus-like syndrome, Cowden syndrome 1
RS121909232 PTEN Health Risk Conflicting classifications of pathogenicity Melanoma, Cowden syndrome 1
RS121909236 PTEN Health Risk Conflicting classifications of pathogenicity Vater association with macrocephaly and ventriculomegaly, PTEN hamartoma tumor syndrome
RS121909237 PTEN Health Risk Likely pathogenic Squamous cell carcinoma of the head and neck, Cowden syndrome 1
RS121909238 PTEN Health Risk Likely pathogenic Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome
RS121909239 PTEN Health Risk Pathogenic/Likely pathogenic Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome
RS121909240 PTEN Health Risk Likely pathogenic Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome
RS121909241 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS121909242 PPARG Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS121909243 PPARG Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS121909244 PPARG Health Risk Pathogenic/Likely pathogenic PPARG-related familial partial lipodystrophy, Lipodystrophy
RS121909245 PPARG Health Risk Pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS121909246 PPARG Health Risk Pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS121909247 IGFALS Health Risk Pathogenic Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS121909248 PITX2 Health Risk Pathogenic Anterior segment dysgenesis 4, Anterior segment dysgenesis
RS121909249 PITX2 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS121909250 ING1 Health Risk Pathogenic Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
RS121909251 ING1 Health Risk Pathogenic Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
RS121909252 ING1 Health Risk Pathogenic Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
RS121909253 LMAN1 Health Risk Pathogenic Factor V and factor VIII, combined deficiency of
RS121909254 RAPSN Health Risk Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS121909255 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS121909256 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS121909258 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia
RS121909259 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Neonatal severe primary hyperparathyroidism
RS121909260 CASR Health Risk Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS121909261 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Autosomal dominant hypocalcemia 1
RS121909262 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS121909263 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia 1, Epilepsy
RS121909264 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia
RS121909265 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS121909266 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia 1, Autosomal dominant hypocalcemia 1
RS121909268 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS121909272 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS121909273 BIN1 Health Risk Pathogenic Myopathy, centronuclear
RS121909274 BIN1 Health Risk Pathogenic Myopathy, centronuclear
RS121909275 BIN1 Health Risk Likely pathogenic Myopathy, centronuclear
RS121909281 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 9, Cardiovascular phenotype
RS121909283 NODAL Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS121909284 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS121909285 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS121909286 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS121909287 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS121909288 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS121909289 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS121909291 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS121909292 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS121909293 CTRC Health Risk Conflicting classifications of pathogenicity; association Pancreatitis, chronic
RS121909294 CTRC Health Risk Conflicting classifications of pathogenicity Pancreatitis, chronic
RS121909295 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS121909296 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS121909297 SGCD Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS121909299 OXCT1 Health Risk Pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS121909300 OXCT1 Health Risk Pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS121909301 OXCT1 Health Risk Pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS121909302 OXCT1 Health Risk Pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS121909304 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS121909305 MYO1A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 48, MYO1A-related disorder
RS121909307 GSS Health Risk Pathogenic Inherited glutathione synthetase deficiency, Inborn genetic diseases
RS121909308 GSS Health Risk Pathogenic/Likely pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria
RS121909309 GSS Health Risk Pathogenic/Likely pathogenic Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria
RS121909323 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS121909324 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Inborn genetic diseases
RS121909326 CACNA1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS121909329 VCP Health Risk Conflicting classifications of pathogenicity Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS121909330 VCP Health Risk Pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS121909331 VCP Health Risk Pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
RS121909332 VCP Health Risk Likely pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS121909334 VCP Health Risk Pathogenic/Likely pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS121909335 VCP Health Risk Pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS121909336 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS121909337 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS121909338 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS121909339 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS121909342 DCTN1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS121909343 DCTN1 Health Risk Uncertain significance; risk factor Amyotrophic lateral sclerosis, susceptibility to
RS121909344 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, susceptibility to
RS121909346 CSTB Health Risk Pathogenic Unverricht-Lundborg syndrome, Unverricht-Lundborg syndrome
RS121909347 GDF5 Health Risk Pathogenic Multiple synostoses syndrome 2, Multiple synostoses syndrome 2
RS121909348 GDF5 Health Risk Pathogenic Brachydactyly type C, Brachydactyly type C
RS121909349 GDF5 Health Risk Pathogenic Symphalangism, proximal
RS121909350 GDF5 Health Risk Pathogenic Acromesomelic dysplasia 2B, Acromesomelic dysplasia 2B
RS121909351 GDF5 Health Risk Pathogenic Acromesomelic dysplasia 2B, Acromesomelic dysplasia 2B
RS121909352 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
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