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
RS2143532950 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS2143534611 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143538802 BCAS3 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2143555720 LOXHD1 Health Risk Pathogenic —
RS2143556646 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2143559471 LOXHD1 Health Risk Likely pathogenic —
RS2143561043 CLTC Health Risk Pathogenic —
RS2143562536 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2143570702 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143577004 SETD1A Health Risk Likely pathogenic —
RS2143577665 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2143580660 CLTC Health Risk Pathogenic Autosomal dominant non-syndromic intellectual disability, Intellectual disability
RS2143585058 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2143585254 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2143585362 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143586491 CLTC Health Risk Pathogenic —
RS2143586633 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2143589664 SETD1A Health Risk Conflicting classifications of pathogenicity Epilepsy, early-onset
RS2143591648 JUP Health Risk Likely pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2143591718 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2143592085 JUP Health Risk Likely pathogenic —
RS2143592425 CLTC Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2143593640 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2143594831 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2143595030 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2143596526 CLTC Health Risk Pathogenic —
RS2143597221 CLTC Health Risk Likely pathogenic —
RS2143600670 CLTC Health Risk Likely pathogenic See cases, See cases
RS2143601360 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2143602282 CLTC Health Risk Pathogenic —
RS2143602393 CLTC Health Risk Pathogenic Abnormal corpus callosum morphology, Abnormal corpus callosum morphology
RS2143603585 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2143605190 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2143605351 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2143607002 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2143608028 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2143608501 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2143608720 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2143615250 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143615845 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143616842 SMCHD1 Health Risk Pathogenic —
RS2143625205 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2143625237 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143625250 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143625360 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143625553 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143625661 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143625963 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143626114 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2143626219 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143626256 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143626487 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2143626686 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143626844 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143627085 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143627187 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143627506 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143627564 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143627611 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143629918 H3-3B Health Risk Likely pathogenic Intellectual disability, Global developmental delay
RS2143629984 H3-3B Health Risk Pathogenic/Likely pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2, H3-3B-related disorder
RS2143629995 H3-3B Health Risk Pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2
RS2143630846 H3-3B Health Risk Pathogenic/Likely pathogenic Intellectual disability, Global developmental delay
RS2143631260 H3-3B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2143631293 H3-3B Health Risk Pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2
RS2143631320 H3-3B Health Risk Likely pathogenic Intellectual disability, Global developmental delay
RS2143631386 MAP3K3 Health Risk Pathogenic/Likely pathogenic Verrucous hemangioma, CEREBRAL CAVERNOUS MALFORMATIONS 5
RS2143631409 H3-3B Health Risk Pathogenic —
RS2143631415 H3-3B Health Risk Likely pathogenic Brain imaging abnormality, Delayed speech and language development
RS2143632135 FANCA Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Fanconi anemia complementation group A
RS2143632171 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143632512 SMCHD1 Health Risk Pathogenic Proximal upper limb muscle weakness, Proximal upper limb muscle weakness
RS2143641088 HSD3B7 Health Risk Pathogenic —
RS2143644450 CNTNAP1 Health Risk Likely pathogenic —
RS2143645089 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143645748 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143645855 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143645885 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143645944 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143646047 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143646085 NF1 Health Risk Pathogenic —
RS2143646186 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143646461 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143646665 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143646778 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143647375 GNAO1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2143647637 SP6 Health Risk Pathogenic Amelogenesis imperfecta, IIa 1K
RS2143650879 GNAL Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS2143651415 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2143651895 PRKAR1A Health Risk Likely pathogenic —
RS2143654921 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2143656696 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143657184 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2143657729 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2143660403 GNAO1 Health Risk Pathogenic Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy
RS2143661323 CNTNAP1 Health Risk Likely pathogenic Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7
RS2143661479 STX1B Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS2143661528 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2143663531 CNTNAP1 Health Risk Pathogenic —
RS2143663891 CNTNAP1 Health Risk Conflicting classifications of pathogenicity Neuropathy, congenital hypomyelinating
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