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
RS1554260284 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554260851 SERAC1 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS1554260888 EYA4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554261245 SERAC1 Health Risk Likely pathogenic —
RS1554261728 EYA4 Health Risk Likely pathogenic —
RS1554261974 EYA4 Health Risk Pathogenic —
RS1554263076 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554263268 TAB2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS1554263318 EPM2A Health Risk Pathogenic —
RS1554263320 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1554263321 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS1554263326 RAC1 Health Risk Pathogenic Intellectual disability, autosomal dominant 48
RS1554263366 EPM2A Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1554263624 RAC1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 48
RS1554263625 RAC1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 48
RS1554263626 RAC1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 48
RS1554263840 HACE1 Health Risk Likely pathogenic —
RS1554264268 RAC1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 48
RS1554264612 LOC111365204;PRDM13 Health Risk Pathogenic North Carolina macular dystrophy, North Carolina macular dystrophy
RS1554264613 LOC111365204;PRDM13 Health Risk Pathogenic North Carolina macular dystrophy, Retinal dystrophy
RS1554264977 MPC1 Health Risk Likely pathogenic Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
RS1554265253 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS1554265269 ARID1B Health Risk Pathogenic —
RS1554265271 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1554265275 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Intellectual disability
RS1554265306 ARID1B Health Risk Pathogenic —
RS1554265316 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554265319 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554265452 SERAC1 Health Risk Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS1554268077 VARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS1554268192 VARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS1554268521 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1554268546 PRPH2 Health Risk Pathogenic Retinitis pigmentosa, PRPH2-related disorder
RS1554268940 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554269046 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, Patterned macular dystrophy 1
RS1554269053 PRPH2 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa
RS1554269071 PRPH2 Health Risk Pathogenic Adult-onset foveomacular vitelliform dystrophy, PRPH2-related disorder
RS1554269081 PRPH2 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1554269295 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554269855 LAMA2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554269891 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Muscular dystrophy
RS1554269966 LAMA2 Health Risk Pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency, Muscular dystrophy
RS1554270806 PRPH2 Health Risk Likely pathogenic —
RS1554270809 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554270831 ARID1B Health Risk Pathogenic —
RS1554270834 PRPH2 Health Risk Pathogenic Retinal dystrophy, Stargardt disease
RS1554270848 PRPH2 Health Risk Likely pathogenic —
RS1554270880 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554271235 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554271741 CARD11 Health Risk Pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1554273585 DLL1 Health Risk Pathogenic —
RS1554274371 HIVEP2 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1554274719 GRM1 Health Risk Pathogenic Spinocerebellar ataxia 44, Spinocerebellar ataxia 44
RS1554275163 HIVEP2 Health Risk Pathogenic Angelman syndrome-like, Intellectual disability
RS1554275655 HIVEP2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554275988 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J
RS1554276147 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1554276623 CARD11 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 11b with atopic dermatitis, Severe combined immunodeficiency due to CARD11 deficiency
RS1554278189 ENPP1 Health Risk Pathogenic —
RS1554278331 ENPP1 Health Risk Pathogenic Hypophosphatemic rickets, autosomal recessive
RS1554278541 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554281038 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554282202 C2 Health Risk Conflicting classifications of pathogenicity —
RS1554282419 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554282540 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554282583 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554284604 TBX20 Health Risk Pathogenic Hypoplastic left heart syndrome, Hypoplastic right heart syndrome
RS1554285766 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554286093 KLHL7 Health Risk Conflicting classifications of pathogenicity PERCHING syndrome, PERCHING syndrome
RS1554286384 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 42
RS1554286963 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1554289078 KLHL7 Health Risk Likely pathogenic Ulnar deviation of the wrist, Distal arthrogryposis
RS1554289495 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554289977 RSPH3 Health Risk Likely pathogenic —
RS1554290311 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554290316 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554291235 CRPPA Health Risk Pathogenic —
RS1554291973 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554292398 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554292444 REPS1 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 7, Neurodegeneration with brain iron accumulation 7
RS1554292684 PMS2 Health Risk Pathogenic —
RS1554292741 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554292759 CNPY3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 60
RS1554292820 CNPY3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 60
RS1554292880 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554293056 KLHL7 Health Risk Likely pathogenic Ulnar deviation of the wrist, Ulnar deviation of the wrist
RS1554293083 KLHL7 Health Risk Likely pathogenic Ulnar deviation of the wrist, Ulnar deviation of the wrist
RS1554293484 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1554293810 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554293869 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1554293920 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554293959 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1554293975 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554293987 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1554293991 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554294019 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS1554294339 STX11 Health Risk Likely pathogenic —
RS1554294393 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1554294422 STX11 Health Risk Pathogenic —
RS1554294448 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
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