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
RS2116581323 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2116586974 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2116592997 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2116593187 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2116594089 IMPDH1 Health Risk Pathogenic —
RS2116598150 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2116601689 IMPDH1 Health Risk Likely pathogenic Retinitis pigmentosa 10, Retinitis pigmentosa 10
RS2116604421 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Papillary renal cell carcinoma type 1
RS2116607774 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2116608214 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2116614049 AP4M1 Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2116614409 PCLO Health Risk Pathogenic —
RS2116614972 PCLO Health Risk Pathogenic —
RS2116616864 AP4M1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2116619497 PCLO Health Risk Pathogenic —
RS2116619574 PIK3CG Health Risk Pathogenic Immunodeficiency 97 with autoinflammation, Immunodeficiency 97 with autoinflammation
RS2116623273 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2116628120 AP4M1 Health Risk Pathogenic —
RS2116629474 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116630442 POR Health Risk Likely pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS2116635157 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116638179 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2116638409 AP4M1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2116643174 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116643224 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116643498 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS2116648196 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116650029 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116654140 DNAJC30 Health Risk Pathogenic Leber-like hereditary optic neuropathy, autosomal recessive 1
RS2116654445 DNAJC30 Health Risk Pathogenic Leber-like hereditary optic neuropathy, autosomal recessive 1
RS2116656505 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116663520 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116668499 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS2116669950 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116670123 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2116670348 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS2116670615 RELN Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2116670931 AP4M1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2116673209 MDH2 Health Risk Likely pathogenic —
RS2116675185 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116676645 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2116678523 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116678722 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116680039 KEL Health Risk association Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
RS2116683702 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116683801 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2116684480 CFTR Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS2116688381 PCLO Health Risk Pathogenic —
RS2116689179 ABCB4 Health Risk Likely pathogenic —
RS2116691068 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2116693349 PCLO Health Risk Pathogenic —
RS2116693521 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116694543 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116694965 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116695697 SGCE Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116695873 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116696690 MDH2 Health Risk Pathogenic —
RS2116717136 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116717319 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS2116722242 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116722345 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116722561 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116722961 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116723386 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116723835 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116724168 STX1A Health Risk Likely pathogenic Autism, Intellectual disability
RS2116724268 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116724823 SGCE Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116724997 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116727279 SLC26A5 Health Risk Pathogenic —
RS2116730958 STX1A Health Risk Likely pathogenic Intellectual disability, Seizure
RS2116730968 STX1A Health Risk Likely pathogenic Autism, Intellectual disability
RS2116731315 STX1A Health Risk Likely pathogenic Intellectual disability, Seizure
RS2116731333 LMOD2 Health Risk Pathogenic Familial isolated dilated cardiomyopathy, Cardiomyopathy
RS2116737208 STX1A Health Risk Pathogenic Autism, Intellectual disability
RS2116752243 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2116755694 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS2116763829 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS2116773782 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS2116773941 KCTD7 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2116774137 KCTD7 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS2116775490 KCTD7 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS2116775509 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS2116775575 KCTD7 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2116783251 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Autosomal recessive nonsyndromic hearing loss 97
RS2116787553 PODXL Health Risk Pathogenic —
RS2116789389 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS2116810501 TRRAP Health Risk Likely pathogenic —
RS2116815571 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS2116826038 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2116833609 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS2116834548 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS2116835879 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS2116836321 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS2116836451 CLCN1 Health Risk Pathogenic —
RS2116837535 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2116837885 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS2116838394 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS2116838620 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2116842799 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
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