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
RS1554086554 KCNN2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Global developmental delay
RS1554086647 TRIO Health Risk Likely pathogenic —
RS1554086653 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554086694 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554086794 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554086823 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS1554086850 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554086854 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554086862 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1554086923 APC Health Risk Likely pathogenic Familial multiple polyposis syndrome, Familial multiple polyposis syndrome
RS1554086935 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554086974 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554087023 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554087036 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554087070 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554087123 APC Health Risk Pathogenic Carcinoma of colon, Familial adenomatous polyposis 1
RS1554087174 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554087239 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS1554087314 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554087379 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554087390 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554087395 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087406 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087423 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087439 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087441 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087445 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087461 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1554087474 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1554087491 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1554087515 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS1554087566 POU4F3 Health Risk Likely pathogenic —
RS1554087620 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS1554087719 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1554087829 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Classic or attenuated familial adenomatous polyposis
RS1554087913 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1554087949 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1554087972 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554087999 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554088002 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554088064 HINT1 Health Risk Likely pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS1554088079 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554088081 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554088099 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554088165 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1554088200 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1554088206 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554088287 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-related disorder
RS1554088313 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1554088359 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554088383 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1554088391 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554088413 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554088578 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1554088582 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554088600 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554088632 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554088726 APC Health Risk Likely pathogenic —
RS1554088762 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554088768 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554088780 APC Health Risk Pathogenic —
RS1554088793 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554089226 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554089593 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1554089838 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554089895 SPINK1 Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS1554090012 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554090072 ADGRV1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS1554090622 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554090927 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554091355 SQSTM1 Health Risk Pathogenic Neurodegeneration with ataxia, dystonia
RS1554091578 TRIO Health Risk Likely pathogenic —
RS1554092890 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS1554093168 SLC25A46 Health Risk Likely pathogenic Neuropathy, hereditary motor and sensory
RS1554093433 NKX2-5 Health Risk Pathogenic/Likely pathogenic Noncompaction cardiomyopathy, Primary dilated cardiomyopathy
RS1554093461 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Inborn genetic diseases
RS1554093487 NKX2-5 Health Risk Pathogenic Cardiovascular phenotype, Atrial septal defect 7
RS1554093882 GABRB2 Health Risk Likely pathogenic —
RS1554093884 GABRB2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Developmental and epileptic encephalopathy 92
RS1554093885 GABRB2 Health Risk Pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS1554093889 GABRB2 Health Risk Pathogenic —
RS1554093891 GABRB2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Developmental and epileptic encephalopathy 92
RS1554093894 GABRB2 Health Risk Pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS1554094145 GABRB2 Health Risk Pathogenic Developmental and epileptic encephalopathy 92, Intellectual disability
RS1554094149 GABRB2 Health Risk Pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS1554094278 GABRB2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554094927 SGCD Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS1554094947 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS1554095084 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS1554095097 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS1554095125 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS1554095137 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS1554095145 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS1554095154 SLC26A2 Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS1554095156 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS1554095167 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS1554095263 SLC34A1 Health Risk Conflicting classifications of pathogenicity Fanconi renotubular syndrome 2, Hypercalcemia
RS1554095266 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS1554095296 SLC26A2 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS1554095356 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
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