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
RS2137881586 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2137882907 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137886925 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137887202 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137888813 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137899543 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137899583 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137903593 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2137903965 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137905441 TNFSF11 Health Risk Pathogenic Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
RS2137906600 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2137907876 SMARCD1 Health Risk Pathogenic Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
RS2137910357 FREM2 Health Risk Pathogenic —
RS2137911082 ATP8A2 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS2137911376 FREM2 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2
RS2137911471 FREM2 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2137911487 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2137913928 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137914537 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137915972 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137916719 TNFSF11 Health Risk Pathogenic Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
RS2137916728 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2137917114 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2137917381 CEP290 Health Risk Likely pathogenic Joubert syndrome 5, Joubert syndrome 5
RS2137919004 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2137919146 CEP290 Health Risk Pathogenic Leber congenital amaurosis 10, Leber congenital amaurosis 10
RS2137919527 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137919964 PKP2 Health Risk Likely pathogenic Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy
RS2137920191 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137920303 GPD1 Health Risk Likely pathogenic Transient infantile hypertriglyceridemia and hepatosteatosis, Transient infantile hypertriglyceridemia and hepatosteatosis
RS2137920321 GPD1 Health Risk Pathogenic Transient infantile hypertriglyceridemia and hepatosteatosis, Transient infantile hypertriglyceridemia and hepatosteatosis
RS2137922911 GPD1 Health Risk Pathogenic —
RS2137925083 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS2137925596 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137926139 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2137931667 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS2137936107 B3GLCT Health Risk Likely pathogenic Peters plus syndrome, Peters plus syndrome
RS2137941877 COG6 Health Risk Likely pathogenic See cases, See cases
RS2137942150 COG6 Health Risk Pathogenic Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation
RS2137943672 OTOGL Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS2137946195 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137946218 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137946556 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2137946568 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137947204 PKP2 Health Risk Pathogenic —
RS2137947261 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2137948074 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137948943 PKP2 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2137950267 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137950376 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137950985 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137951361 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS2137952274 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi Goutieres syndrome
RS2137952423 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137952495 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137952811 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137953226 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS2137959601 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2137959683 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2137959875 ARID2 Health Risk Pathogenic ARID2-related BAFopathy, ARID2-related BAFopathy
RS2137980593 PIBF1 Health Risk Likely pathogenic Joubert syndrome 33, Joubert syndrome 33
RS2137982729 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS2137994737 ATP8A2 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS2137997888 ITM2B Health Risk Likely pathogenic ABri amyloidosis, ABri amyloidosis
RS2138000998 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138012131 COG6 Health Risk Likely pathogenic —
RS2138021203 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138021345 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138023519 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138025029 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138025895 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138025968 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138027150 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138027212 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138027218 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138027345 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138027419 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138027798 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138028088 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138028105 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138033781 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138033820 RB1 Health Risk Pathogenic Retinoblastoma, Neoplasm
RS2138033935 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138034025 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138034088 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138034131 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary retinoblastoma
RS2138034351 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138034389 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138034427 RB1 Health Risk Pathogenic Retinoblastoma, Malignant tumor of urinary bladder
RS2138034575 OTOGL Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS2138045649 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2138045987 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2138050429 CDK8 Health Risk Likely pathogenic Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
RS2138053997 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2138054047 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2138054088 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2138056681 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2138056689 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2138056755 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2138056832 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
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