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
RS1364739747 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS1364754878 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1364768386 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1364773011 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS1364773484 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1364779690 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1364780551 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS1364784378 GNPTAB Health Risk Likely pathogenic Mucolipidosis, Mucolipidosis type II
RS1364784964 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS1364796862 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1364800683 COL4A3 Health Risk Likely pathogenic —
RS1364808920 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1364819755 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1364823765 TYR Health Risk Pathogenic TYR-related disorder, SKIN/HAIR/EYE PIGMENTATION 3
RS1364834942 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1364860348 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1364913665 LGI1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant epilepsy with auditory features, Epilepsy
RS1364945778 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, CEP290-related disorder
RS1364947213 VPS13B Health Risk Likely pathogenic 6 conditions, High myopia
RS1364950881 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1364953579 SLC1A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1364954371 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1364961973 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1364971527 HIBCH Health Risk Pathogenic/Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, See cases
RS1364973121 ERCC6 Health Risk Likely pathogenic —
RS1364976535 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1364987785 USH2A Health Risk Pathogenic Usher syndrome type 2, Retinitis pigmentosa 39
RS1364998040 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS1365010331 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1365010493 PHEX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1365019056 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1365019676 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS1365022834 NPHP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome with renal defect, Nephronophthisis 1
RS1365042239 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1365047750 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1365049763 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1365085828 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS1365128831 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1365148358 COL7A1 Health Risk Likely pathogenic —
RS1365173817 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1365226221 CR2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS1365230067 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1365239366 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1365249537 COL6A5 Health Risk Conflicting classifications of pathogenicity —
RS1365275304 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1365305675 BRWD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1365308037 PNPT1 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS1365337213 APOA5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1365354712 TCF12 Health Risk Pathogenic Developmental delay, Developmental delay
RS1365372289 ADCY5 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Dyskinesia with orofacial involvement
RS1365389365 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS1365390122 EIF2B2 Health Risk Conflicting classifications of pathogenicity —
RS1365404018 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1365407882 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1365414881 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1365439707 IFT81 Health Risk Likely pathogenic —
RS1365445365 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1365446658 GYG1 Health Risk Likely pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS1365450066 COL18A1 Health Risk Pathogenic Knobloch syndrome 1, Knobloch syndrome 1
RS1365453773 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1365461027 PCYT2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1365470411 SLC26A3 Health Risk Pathogenic —
RS1365474284 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1365479526 DNMT3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1365490247 CACNA1F Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1365502451 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1365563478 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1365580904 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1365611175 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1365616275 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1365620880 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1365622597 ZYG11B Health Risk Likely pathogenic Craniofacial microsomia 1, Craniofacial microsomia 1
RS1365625070 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1365632054 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1365665482 SEC24D Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1365669334 RP1 Health Risk Pathogenic RP1-related recessive retinopathy, RP1-related recessive retinopathy
RS1365675953 PCARE Health Risk Pathogenic —
RS1365687375 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1365691434 RECQL4 Health Risk Conflicting classifications of pathogenicity Rothmund-Thomson syndrome type 2, Rothmund-Thomson syndrome type 2
RS1365700579 YARS2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS1365704916 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1365723695 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1365726807 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1365746397 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1365753930 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1365770233 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS1365774406 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1365778107 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1365780833 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS1365799072 COL11A2 Health Risk Pathogenic —
RS1365818420 SMOC1 Health Risk Pathogenic Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
RS1365849986 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1365856881 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS1365858851 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1365879789 UBE3B Health Risk Pathogenic —
RS1365908727 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, RP1-related disorder
RS1365923535 SGCB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1365926067 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1365926616 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1365970060 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
« Prev 1 ... 411 412 413 414 415 416 417 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →