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
RS757988141 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS757988188 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS757988232 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757988412 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS757989905 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS757990543 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS757991922 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS757992911 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS757993270 PAFAH1B1 Health Risk Pathogenic —
RS757993503 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS757993614 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group F, Fanconi anemia
RS757994549 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS757994723 SLC26A5 Health Risk Pathogenic —
RS757995302 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS757997140 MOGS Health Risk Likely pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS757998854 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS757999676 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS757999917 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS758000012 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS758001054 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS758001091 AIPL1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis 4
RS758001307 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS758002964 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS758003106 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS758003959 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758004668 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS758004789 CTSF Health Risk Pathogenic Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS758004953 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS758006837 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758007166 YY1AP1 Health Risk Pathogenic —
RS758007485 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS758008398 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS758008534 STX1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 9
RS758009637 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS758012554 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS758012734 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS758013935 TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS758014063 SCNN1A Health Risk Pathogenic —
RS758014228 ATP13A2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS758015273 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS758016217 ALMS1 Health Risk Likely pathogenic ALMS1-related disorder, ALMS1-related disorder
RS758016271 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS758016812 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, TH-related disorder
RS758017301 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS758017357 CFI Health Risk Conflicting classifications of pathogenicity CFI-related disorder, CFI-related disorder
RS758017817 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS758017974 CTSC Health Risk Pathogenic Haim-Munk syndrome, Periodontitis
RS758018736 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS758019530 KLB Health Risk Conflicting classifications of pathogenicity —
RS758019778 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758019788 PREPL Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS758020068 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS758020436 PDHX Health Risk Pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS758020565 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS758022116 RALGAPB Health Risk Likely pathogenic Septo-optic dysplasia sequence, Septo-optic dysplasia sequence
RS758022455 IL23R Health Risk Conflicting classifications of pathogenicity —
RS758022463 KIF15 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS758025325 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS758026180 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Neuronopathy
RS758026399 MVK Health Risk Pathogenic Mevalonic aciduria, Porokeratosis 3
RS758026634 TWNK Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS758027394 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS758028194 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS758028806 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS758029117 RAD51C Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS758029533 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS758029668 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS758030589 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS758032054 STX11 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS758032156 MYSM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758034666 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758034866 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS758035051 FBN1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS758035061 DNAH8 Health Risk Pathogenic/Likely pathogenic DNAH8-related disorder, Primary ciliary dyskinesia
RS758035070 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS758035631 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS758035705 MBD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Inborn genetic diseases
RS758036385 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS758038580 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS758039020 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS758039889 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS758040210 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS758044508 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS758044862 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS758045039 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS758045139 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS758045328 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS758046042 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
RS758046482 COL4A3 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS758046644 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS758046666 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS758047046 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS758047603 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS758048573 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS758048596 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS758049059 CFI Health Risk Pathogenic Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly
RS758049210 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS758051022 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS758051035 CDH3 Health Risk Likely pathogenic —
RS758051221 EMC1 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy, visual impairment
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