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
RS1596682330 ATP2A1 Health Risk Likely pathogenic Brody myopathy, Brody myopathy
RS1596687174 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1596687555 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS1596711175 MAPK8IP3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS1596712783 CD19 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1596712899 MYH11 Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 4
RS1596714308 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS1596714579 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS1596714750 STX1B Health Risk Pathogenic —
RS1596716834 STX1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 9
RS1596716888 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS1596717264 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS1596718225 CD19 Health Risk Likely pathogenic Immunodeficiency, common variable
RS1596719437 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS1596730121 MYH11 Health Risk Likely pathogenic —
RS1596759273 ZNF423 Health Risk Likely pathogenic Nephronophthisis 14, ZNF423-related disorder
RS1596760831 SCNN1G Health Risk Likely pathogenic Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2
RS1596763347 ZNF423 Health Risk Pathogenic Joubert syndrome 19, Joubert syndrome 19
RS1596763358 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1596766963 MAPK8IP3 Health Risk Likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS1596772428 CERS3 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9
RS1596777509 SCNN1G Health Risk Likely pathogenic —
RS1596779402 SCNN1G Health Risk Pathogenic Pseudohypoaldosteronism, type IB3
RS1596779433 SCNN1G Health Risk Pathogenic Pseudohypoaldosteronism, type IB3
RS1596779485 SCNN1G Health Risk Likely pathogenic —
RS1596780112 MAPK8IP3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS1596783639 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596784178 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1596784310 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596784713 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596785514 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596786167 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1596786219 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596786512 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596786752 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596787407 CREBBP Health Risk Pathogenic —
RS1596787459 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596787821 GNAO1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 17
RS1596788162 CREBBP Health Risk Likely pathogenic —
RS1596791996 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS1596793242 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, CREBBP-related disorder
RS1596803811 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596804073 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596804126 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596805575 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1596805792 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596805807 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596805927 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596810419 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596810435 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596810465 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596812202 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596812256 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596812290 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596812306 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596812454 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS1596813570 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596813665 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596823180 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596834998 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596839714 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS1596839727 CREBBP Health Risk Pathogenic —
RS1596842934 ABCA3 Health Risk Likely pathogenic Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies, Hereditary pulmonary alveolar proteinosis
RS1596848231 PARN Health Risk Likely pathogenic Familial Interstitial Pneumonia, Pulmonary fibrosis
RS1596852443 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596852463 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596852578 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Inborn genetic diseases
RS1596852670 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS1596852674 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596852902 TBX6 Health Risk Pathogenic Scoliosis, Scoliosis
RS1596853067 TBX6 Health Risk Likely pathogenic Scoliosis, Scoliosis
RS1596853085 TBX6 Health Risk Pathogenic Scoliosis, Scoliosis
RS1596853925 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596854023 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596854369 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596854441 KIF22 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations
RS1596856176 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596856285 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596856390 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596861969 NUP93 Health Risk Likely pathogenic Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS1596864597 GPT2 Health Risk Likely pathogenic Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
RS1596867702 GNAO1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 17
RS1596871452 GNAO1 Health Risk Likely pathogenic Dyskinesia, Chorea
RS1596872804 GNAO1 Health Risk Pathogenic Choreoathetosis, Inborn genetic diseases
RS1596878700 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596878921 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596882004 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596882010 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596882124 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596882629 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596883431 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1596885651 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596885894 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596886048 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596886086 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1596886132 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596886183 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1596886295 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1596889984 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1596890176 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
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