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
RS377249792 AFG3L2 Health Risk Pathogenic —
RS377252810 SMG9 Health Risk Pathogenic Neurodevelopmental disorder with intention tremor, pyramidal signs
RS377253172 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS377253398 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS377256554 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS377256877 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2
RS377257254 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 37
RS377257364 TRPV4 Health Risk Conflicting classifications of pathogenicity Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia
RS377258492 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS377258542 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 2A
RS377258966 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS377259044 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS377259058 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS377259262 CAPN1 Health Risk Conflicting classifications of pathogenicity —
RS377259633 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS377259695 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377259750 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS377260382 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS377260468 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS377261049 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS377261893 CHN1 Health Risk Conflicting classifications of pathogenicity Duane retraction syndrome 2, Duane retraction syndrome 2
RS377262548 CFAP418 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 16, Retinitis pigmentosa
RS377262966 CD3G Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CD3gamma deficiency, CD3G-related disorder
RS377263230 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS377263950 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377264123 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS377264390 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS377264487 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS377266355 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS377267217 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS377267329 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377267777 MYO7A Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive
RS377269265 KCNU1 Health Risk Pathogenic Spermatogenic failure 79, Spermatogenic failure 79
RS377269890 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS377270604 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS377270943 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS377271627 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS377271913 DSG4 Health Risk Pathogenic —
RS377274250 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS377274728 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS377274761 GALC Health Risk Pathogenic/Likely pathogenic 19 conditions, Galactosylceramide beta-galactosidase deficiency
RS377275979 PJVK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377277110 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg
RS377278120 PCYT2 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia 82, autosomal recessive
RS377278397 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS377278570 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS377278762 COL1A2 Health Risk Conflicting classifications of pathogenicity 6 conditions, Ehlers-Danlos syndrome
RS377279064 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS377279170 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS377280518 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS377281121 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS377281257 CDON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly 11
RS377281840 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS377282102 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS377282283 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS377282860 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS377283762 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS377283866 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS377284693 CEL Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS377285294 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS377285489 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS377286829 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS377287446 CXCR4 Health Risk Conflicting classifications of pathogenicity Warts, hypogammaglobulinemia
RS377287621 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS377288086 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS377288128 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS377288637 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS377289479 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS377289513 SLC25A46 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary motor and sensory
RS377289817 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS377290130 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS377290301 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS377291764 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Prostate cancer
RS377292905 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS377293019 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS377293025 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS377293194 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS377293829 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS377294245 NOTCH1 Health Risk Conflicting classifications of pathogenicity Bicuspid aortic valve, Abnormal vena cava morphology
RS377294947 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS377295149 PGM1 Health Risk Pathogenic/Likely pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS377295214 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS377295510 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS377295639 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS377295676 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS377295986 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS377296133 TTN Health Risk Conflicting classifications of pathogenicity —
RS377297129 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS377297166 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS377297446 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS377297596 ROBO1 Health Risk Conflicting classifications of pathogenicity ROBO1-related disorder, Neurooculorenal syndrome
RS377298249 RNF31 Health Risk Conflicting classifications of pathogenicity RNF31-related disorder, RNF31-related disorder
RS377300009 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS377300383 DSPP Health Risk Conflicting classifications of pathogenicity —
RS377302798 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS377303800 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS377303931 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS377304621 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS377305355 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS377305989 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic
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