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
RS2033909461 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2033913406 VAC14 Health Risk Likely pathogenic —
RS2033925649 HNF1B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Renal cysts and diabetes syndrome
RS2033927631 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2033928772 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2033930573 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2033937635 CEP290 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Bardet-Biedl syndrome 14
RS2033941632 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2033943937 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2033955113 ANKRD11 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2033967776 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2033996047 ANKRD11 Health Risk Pathogenic Intellectual disability, KBG syndrome
RS2034001586 GNB5 Health Risk Pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
RS2034013225 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2034029835 EIF2AK4;LOC130056813 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS2034054366 ANKRD11 Health Risk Likely pathogenic KBG syndrome, Intellectual disability
RS2034059953 TOP1 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS2034113963 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2034117925 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2034119944 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2034121058 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2034124973 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2034142706 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2034143217 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034182420 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034190303 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS2034192763 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2034193297 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2034195416 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2034195455 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034195603 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034201742 ANKRD11 Health Risk Pathogenic —
RS2034203464 TRPM1 Health Risk Pathogenic —
RS2034210482 PIEZO2 Health Risk Pathogenic Gordon syndrome, Gordon syndrome
RS2034218920 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034229995 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, KBG syndrome
RS2034232539 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS2034234195 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS2034235109 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2034241585 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS2034242246 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2034243912 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2034257020 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2034270521 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034272227 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034281644 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2034289118 ANKRD11 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2034292112 UBR1 Health Risk Likely pathogenic —
RS2034307984 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034308476 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034330893 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2034338452 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2034339711 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2034340511 ANKRD11 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2034342196 ANKRD11 Health Risk Pathogenic —
RS2034346369 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2034349431 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS2034349886 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2034350473 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2034350757 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034351295 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034353033 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034357761 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS2034358073 USH2A Health Risk Pathogenic —
RS2034359637 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2034364118 TAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS2034367690 TRPM1 Health Risk Pathogenic —
RS2034368063 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034375788 HECTD4 Health Risk Pathogenic Neurodevelopmental disorder with seizures, spasticity
RS2034378960 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034384853 NEK8 Health Risk Likely pathogenic —
RS2034398158 TRPM1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2034404764 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034413419 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2034416153 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034416782 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2034417449 ANKRD11 Health Risk Pathogenic —
RS2034420069 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2034426153 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034426914 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034427266 TRPM1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2034427601 TRPM1 Health Risk Pathogenic —
RS2034440990 ANKRD11 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2034442612 TAF1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2034450158 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034453469 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034460549 ANKRD11 Health Risk Pathogenic —
RS2034464059 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, KBG syndrome
RS2034464204 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, KBG syndrome
RS2034470669 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2034471125 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034483683 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034485034 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034487965 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, Intellectual disability
RS2034488113 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034490973 ANKRD11 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2034491391 TRPM1 Health Risk Likely pathogenic —
RS2034496911 GREB1L Health Risk Pathogenic —
RS2034502951 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2034503530 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
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