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
RS2510386025 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510386126 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510386166 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510386542 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510386943 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510387276 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2510393718 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2510396780 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510396866 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510396923 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510398841 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510398963 GAA Health Risk Likely pathogenic —
RS2510399226 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510399260 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510399333 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510399942 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510399985 GAA Health Risk Likely pathogenic —
RS2510400033 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510402002 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510402010 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510402131 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510402647 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510403029 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510404041 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510404093 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510404144 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510404152 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2510404321 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510404334 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510404344 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510404506 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510404583 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510404705 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2510404730 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510405069 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510405389 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2510407100 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2510407224 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2510469062 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510470459 KANSL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2510473419 PIEZO2 Health Risk Likely pathogenic PIEZO2-related disorder, PIEZO2-related disorder
RS2510479553 GNAL Health Risk Likely pathogenic Dystonia 25, Dystonia 25
RS2510481195 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2510481313 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2510487229 ATP6V0A1 Health Risk Pathogenic Developmental and epileptic encephalopathy 104, Neurodevelopmental disorder with epilepsy and brain atrophy
RS2510489205 PIEZO2 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal
RS2510489906 TANC2 Health Risk Pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS2510499866 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2510500842 KANSL1 Health Risk Pathogenic —
RS2510501074 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2510516321 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510535483 GNAL Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS2510548443 TBCD Health Risk Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS2510549477 PIEZO2 Health Risk Likely pathogenic Heterotaxy, visceral
RS2510609298 TANC2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2510610110 BPTF Health Risk Likely pathogenic —
RS2510614539 ARSG Health Risk Likely pathogenic Usher syndrome, type 4
RS2510618048 RBFOX1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2510624241 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510625479 GATA6 Health Risk Likely pathogenic Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS2510626008 GATA6 Health Risk Pathogenic Atrioventricular septal defect 5, Atrioventricular septal defect 5
RS2510626075 GATA6 Health Risk Likely pathogenic GATA6-related disorder, GATA6-related disorder
RS2510626136 GATA6 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2510626168 GATA6 Health Risk Pathogenic Conotruncal heart malformations, Conotruncal heart malformations
RS2510626255 GATA6 Health Risk Pathogenic Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS2510627049 GATA6 Health Risk Pathogenic Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS2510629614 GATA6 Health Risk Pathogenic —
RS2510632394 GATA6 Health Risk Pathogenic —
RS2510632428 GATA6 Health Risk Pathogenic GATA6-related disorder, GATA6-related disorder
RS2510632551 TANC2 Health Risk Likely pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS2510637127 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS2510637132 PIEZO2 Health Risk Likely pathogenic —
RS2510637362 PIEZO2 Health Risk Pathogenic —
RS2510643985 TBCD Health Risk Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS2510648438 KANSL1 Health Risk Pathogenic Inborn genetic diseases, Koolen-de Vries syndrome
RS2510649349 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2510649581 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510649722 KANSL1 Health Risk Pathogenic —
RS2510649793 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510649972 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2510650286 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510650296 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510650548 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510650554 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2510652024 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510652026 NAGLU Health Risk Likely pathogenic NAGLU-related disorder, NAGLU-related disorder
RS2510652114 NAGLU Health Risk Likely pathogenic NAGLU-related disorder, NAGLU-related disorder
RS2510652118 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510652165 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510652171 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510652210 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510652219 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510653230 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510653298 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510653303 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2510653397 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510653834 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2510653897 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510653907 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2510653910 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
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