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
RS2141658932 OTOA Health Risk Pathogenic Hearing loss, autosomal recessive
RS2141664466 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS2141665094 MEFV Health Risk Likely pathogenic —
RS2141675686 OTOA Health Risk Pathogenic —
RS2141676232 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2141676533 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2141676543 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2141676609 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2141676806 UMOD Health Risk Pathogenic —
RS2141676976 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2141688617 OTOA Health Risk Pathogenic —
RS2141693746 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141693825 LRRK1 Health Risk Pathogenic —
RS2141695316 ABCA3 Health Risk Pathogenic —
RS2141696548 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS2141698833 FBXO22 Health Risk Pathogenic Neurodevelopmental disorder, Tayoun-Maawali syndrome
RS2141700836 OTOA Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 22
RS2141702839 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141703433 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141703722 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141704162 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141705504 ABCA3 Health Risk Pathogenic —
RS2141707084 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141712336 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141712529 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS2141714500 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141714554 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS2141715669 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS2141716542 OTOA Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS2141719739 KNL1 Health Risk Pathogenic Microcephaly 4, primary
RS2141720777 KNL1 Health Risk Pathogenic —
RS2141721054 KNL1 Health Risk Likely pathogenic Microcephaly 4, primary
RS2141721909 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141722729 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141723087 OTOA Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS2141725707 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS2141745830 CHD2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2141746246 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141755356 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141755359 CHD2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS2141771878 TBC1D2B Health Risk Pathogenic Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
RS2141773306 KNL1 Health Risk Likely pathogenic —
RS2141773765 MESP2 Health Risk Pathogenic —
RS2141773831 MESP2 Health Risk Pathogenic —
RS2141773848 MESP2 Health Risk Pathogenic —
RS2141773876 MESP2 Health Risk Pathogenic —
RS2141774101 MESP2 Health Risk Pathogenic —
RS2141774162 MESP2 Health Risk Pathogenic —
RS2141774639 MESP2 Health Risk Pathogenic —
RS2141774796 MESP2 Health Risk Pathogenic —
RS2141778479 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141785016 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141785162 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141787520 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141787589 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141787733 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141790977 CHD2 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2141791104 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141800223 IFT140 Health Risk Pathogenic Retinitis pigmentosa 80, Cystic renal disease
RS2141802487 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141802547 CHD2 Health Risk Pathogenic —
RS2141802578 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141805160 TBC1D2B Health Risk Pathogenic Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
RS2141805189 TBC1D2B Health Risk Likely pathogenic Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
RS2141806882 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS2141811616 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141814810 CHD2 Health Risk Conflicting classifications of pathogenicity —
RS2141814886 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141815273 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2141815476 POLG Health Risk Likely pathogenic —
RS2141816511 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141816525 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141816539 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141816540 IFT140 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS2141816549 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141816557 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141830701 CHD2 Health Risk Pathogenic —
RS2141836224 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141837067 WDR73 Health Risk Pathogenic/Likely pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS2141839134 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141839141 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Intellectual disability
RS2141843174 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141843225 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141843235 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141844210 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141844216 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141844219 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141844243 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141844251 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141844278 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141846356 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141846587 WDR73 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2141850583 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141850628 CHD2 Health Risk Likely pathogenic —
RS2141850669 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141851983 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141852009 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141852057 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141861645 CHD2 Health Risk Likely pathogenic —
RS2141861661 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
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