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
RS762491815 SKIC2 Health Risk Pathogenic —
RS762492041 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS762492730 HAX1 Health Risk Conflicting classifications of pathogenicity Kostmann syndrome, Inborn genetic diseases
RS762493013 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS762493571 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS762494017 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS762494280 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS762495217 RPGR Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Primary ciliary dyskinesia
RS762495974 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS762496290 CRB2 Health Risk Likely pathogenic —
RS76249824 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS762499313 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS762499740 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, Inborn genetic diseases
RS762501862 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS762503273 GLE1 Health Risk Likely pathogenic —
RS762503607 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS762503667 EMC1 Health Risk Pathogenic Cerebellar atrophy, visual impairment
RS762504147 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS762504207 COL4A4 Health Risk Pathogenic —
RS762504554 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS762504730 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS762505127 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency
RS762508142 TNFRSF9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TNFRSF9-related disorder
RS762509151 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS762510108 TTN Health Risk Conflicting classifications of pathogenicity —
RS762510239 NDST1 Health Risk Conflicting classifications of pathogenicity —
RS762510312 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS762510375 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS762510540 ALG3 Health Risk Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS76251057 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS762511246 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 4B, autosomal recessive
RS762511626 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS762511819 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS762512079 RAB23 Health Risk Pathogenic Carpenter syndrome, Carpenter syndrome
RS762513527 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS762515373 GLMN Health Risk Pathogenic Glomuvenous malformation, GLMN-related disorder
RS762515688 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS762515973 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS762515987 DNHD1 Health Risk Likely pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS762516507 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS762516598 CLCN2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II
RS762516961 DCDC2 Health Risk Pathogenic DCDC2-related disorder, Isolated neonatal sclerosing cholangitis
RS762516973 ASPM Health Risk Pathogenic —
RS762517273 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS76251791 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS762518208 PDE6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762518389 PTEN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS762518741 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS762519059 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS762521317 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS762521668 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS762521873 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS762521982 EYS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762522517 SCNN1G Health Risk Conflicting classifications of pathogenicity Liddle syndrome 2, Pseudohypoaldosteronism
RS762523752 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, Inborn genetic diseases
RS762523863 CAPN15 Health Risk Pathogenic Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
RS762524252 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS762525651 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS762526701 ZCCHC8 Health Risk Conflicting classifications of pathogenicity —
RS762526848 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS762526878 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS762526880 MPO Health Risk Likely pathogenic Myeloperoxidase deficiency, Alzheimer disease type 1
RS762528243 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS762528364 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS762528879 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS762529663 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS762529671 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS762533972 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS762535387 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS762536905 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 15
RS762537238 MYO15A Health Risk Pathogenic —
RS762538092 IKZF1 Health Risk Conflicting classifications of pathogenicity —
RS762540407 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS762540648 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS762540878 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS762540907 ABCG8 Health Risk Pathogenic —
RS762543032 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Joubert syndrome 6
RS762544228 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS762544728 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS762545015 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS762545526 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS762545740 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS762545991 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS762547610 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS762549394 HARS2 Health Risk Conflicting classifications of pathogenicity —
RS762549821 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS762550472 AR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Androgen resistance syndrome
RS762550487 CYP27B1 Health Risk Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1A
RS762550927 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS762550967 DGUOK Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
RS762551492 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS762551629 USH1C Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS762552065 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS762552974 TBCK Health Risk Pathogenic Global developmental delay, Hypotonia
RS762553587 EXOC7 Health Risk Pathogenic Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy
RS762554291 SERPINF1 Health Risk Pathogenic —
RS762555190 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Intellectual disability
RS762555871 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762556251 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS762556795 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
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