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
RS745698076 IFT172 Health Risk Conflicting classifications of pathogenicity IFT172-related disorder, Short-rib thoracic dysplasia 10 with or without polydactyly
RS745699870 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS745700206 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS745700518 GTPBP3 Health Risk Pathogenic —
RS745700983 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Dilated cardiomyopathy 1G
RS745702141 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS745702167 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS745702205 MCPH1 Health Risk Likely pathogenic Microcephaly 1, primary
RS745704046 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Homocystinuria
RS745704336 TOGARAM1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 37
RS745704627 PROM1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 41, Retinal dystrophy
RS745705515 TET2 Health Risk Pathogenic —
RS745705522 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS745705652 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS745708044 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS745708104 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS745709409 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS745710633 CCM2 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS745711468 LMX1B Health Risk Pathogenic —
RS745711486 COQ8A Health Risk Pathogenic —
RS745711489 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS745712429 WFS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Wolfram syndrome 1
RS745712472 KRABD4 Health Risk Conflicting classifications of pathogenicity —
RS745712829 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS745713189 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS745714537 DNMT3A Health Risk Likely pathogenic —
RS745714733 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS745715225 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS74571530 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS745715484 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS745715995 SCNN1G Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS745716104 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS745717087 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS745717503 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS745718158 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS745718831 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS745719077 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS745719906 ACTL7A Health Risk Pathogenic Male infertility with normal semen parameters, Male infertility with normal semen parameters
RS745720102 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS745720217 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS745721296 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS745722568 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS745722569 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS745723771 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS745725479 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS745725913 SMARCA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745726033 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS745726293 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS745726816 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745727200 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS745727347 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS745727504 HADH Health Risk Pathogenic/Likely pathogenic/Likely risk allele Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS745727857 COL9A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS745730439 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS745730969 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Inborn genetic diseases
RS745731000 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS74573309 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS745733410 MED17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745734653 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS745734847 LSS Health Risk Pathogenic Hypotrichosis 14, Alopecia-intellectual disability syndrome 4
RS745735883 TUBGCP4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745736928 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS745737815 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS745738301 CAMTA1 Health Risk Pathogenic —
RS745738318 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS745738628 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS74574054 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS745740862 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS745740932 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS745740974 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS745741473 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 13
RS745741842 SNAP25 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 18, SNAP25-related disorder
RS745741888 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745741960 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS745742009 DOCK6;DOCK6-AS1 Health Risk Likely pathogenic Hypercholanemia, familial 1
RS745742289 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS745742429 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, CODAS syndrome
RS745743634 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS745743780 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS745743884 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS745744124 B4GALNT1 Health Risk Pathogenic Hereditary spastic paraplegia 26, Inborn genetic diseases
RS745745237 TTN Health Risk Conflicting classifications of pathogenicity —
RS745746091 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS745747228 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS745748213 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS745750156 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Familial pancreatic carcinoma
RS745750549 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS74575103 G6PD Health Risk Pathogenic/Likely pathogenic G6PD deficiency, Anemia
RS745751151 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS745751553 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS745753810 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS745754277 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS745754388 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS745754668 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS745755437 GDF9 Health Risk Pathogenic Premature ovarian failure 14, Premature ovarian failure 14
RS745755917 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS745756308 HNMT Health Risk Likely pathogenic Intellectual disability, autosomal recessive 51
RS745757264 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS745758403 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745758977 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
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