SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS78627909 SLCO1B3 Health Risk Pathogenic Rotor syndrome, SLCO1B3-related disorder
RS78628025 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Microcephaly 6
RS78631453 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS78633961 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Inborn genetic diseases
RS78635798 RNASEH2C Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 3, Aicardi Goutieres syndrome
RS78644690 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Autosomal dominant nonsyndromic hearing loss 65
RS78655421 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS78655458 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS78657146 GBA1 Health Risk Likely pathogenic —
RS78657866 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS78662124 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS78667015 GCNT2 Health Risk Conflicting classifications of pathogenicity Blood group, I system
RS78667898 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS78678589 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS78683075 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS7868941 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS78705382 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS78708791 LOC100507346;PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS78715863 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS78727187 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS78738655 PAX2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Renal coloboma syndrome
RS78741041 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS78753252 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS78756941 CFTR Health Risk Pathogenic Cystic fibrosis, Hereditary pancreatitis
RS78762691 TREX1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1
RS78769542 CFTR Health Risk Likely pathogenic Cystic fibrosis, ivacaftor response - Efficacy
RS78769774 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease type I
RS78775072 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 43, Retinitis pigmentosa
RS78782061 MBD4 Health Risk Conflicting classifications of pathogenicity MBD4-related disorder, Inborn genetic diseases
RS78788119 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMB3-related disorder
RS78802634 CFTR Health Risk Pathogenic Cystic fibrosis, Hereditary pancreatitis
RS78809001 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, NECTIN1-related disorder
RS78814506 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS78817184 NALCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NALCN-related disorder
RS78818764 DGKZ Health Risk Conflicting classifications of pathogenicity —
RS78820476 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS78828338 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS78833918 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS78838117 SLC67A1 Health Risk Conflicting classifications of pathogenicity Rhabdomyosarcoma, somatic
RS78845357 DNAH9 Health Risk Conflicting classifications of pathogenicity DNAH9-related disorder, DNAH9-related disorder
RS78846775 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, autosomal dominant
RS78847145 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS78847357 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS7885041 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS78853309 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS78860240 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS78870221 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS78870836 ZIC3 Health Risk Conflicting classifications of pathogenicity VACTERL association, X-linked
RS78874550 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS78875649 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS78876145 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, DUOX2-related disorder
RS78879762 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS78880369 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS78882347 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS78886485 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Inborn genetic diseases
RS78887288 ATP2C2 Health Risk Conflicting classifications of pathogenicity —
RS78892511 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Long QT syndrome 12
RS78892693 HPS4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hermansky-Pudlak syndrome 4
RS78897684 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS78909279 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS78909830 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS78912192 UNC80 Health Risk Conflicting classifications of pathogenicity UNC80-related disorder, Inborn genetic diseases
RS78920863 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS78925326 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS78926093 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS78929970 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS78931658 ALDH1A3 Health Risk Pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS78935210 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS78935588 RET Health Risk Pathogenic Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2A
RS78936193 NTRK2 Health Risk Conflicting classifications of pathogenicity NTRK2-related disorder, NTRK2-related disorder
RS78937798 SLC14A1 Health Risk Likely pathogenic Jk-null variant, SLC14A1-related disorder
RS78938783 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, CYP27A1-related disorder
RS78945041 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS78948846 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS78950939 MPO Health Risk Conflicting classifications of pathogenicity Myeloperoxidase deficiency, Alzheimer disease type 1
RS78951648 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS78956195 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS78964730 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS78965616 CYP4V2 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Bietti crystalline corneoretinal dystrophy
RS78967885 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS78970689 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS78972735 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, Kidney disorder
RS78973108 GBA1 Health Risk Pathogenic Gaucher disease perinatal lethal, Gaucher disease
RS78980950 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Inborn genetic diseases
RS78984783 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS78993751 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Lung cancer
RS78996818 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS79006549 NECTIN3 Health Risk Conflicting classifications of pathogenicity Developmental cataract, NECTIN3-related disorder
RS79012831 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS79014735 RET Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS79015533 MYH11;NDE1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS79020217 ZFP57 Health Risk Pathogenic Diabetes mellitus, transient neonatal
RS79023226 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS79027628 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS79031340 CFTR Health Risk Pathogenic Cystic fibrosis, Inborn genetic diseases
RS7903146 LOC110121472;TCF7L2 Health Risk Likely risk allele Diabetes mellitus type 2, susceptibility to
RS79036642 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS79045813 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS79047578 NALCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS79063654 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
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