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
RS767393290 NDUFS4 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mitochondrial complex I deficiency
RS767393318 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS767395666 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS767395738 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS767396631 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS767396820 CTSC Health Risk Likely pathogenic Periodontitis, aggressive 1
RS767398317 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS767399660 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS767399782 TUBB4A Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Cerebral palsy
RS767399919 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS767400155 IMPG1 Health Risk Pathogenic —
RS767400168 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS767400887 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS767400961 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS767402084 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS767402215 CA5A Health Risk Pathogenic Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
RS767403321 PHYH Health Risk Pathogenic Phytanic acid storage disease, Retinal dystrophy
RS767404024 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS767404055 LEPR Health Risk Conflicting classifications of pathogenicity —
RS767405408 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS767405535 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS767406030 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS767406263 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS767407566 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS767408144 RECQL Health Risk Conflicting classifications of pathogenicity —
RS767408748 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS767408811 STIL Health Risk Pathogenic —
RS767408882 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS767409395 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS767410345 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS767411521 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS767412638 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS767412828 SLC1A4 Health Risk Conflicting classifications of pathogenicity Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS767413799 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS767413852 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS767414081 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS767414809 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS767414907 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767414973 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa
RS767415197 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS767415886 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS767415935 MMP19 Health Risk Conflicting classifications of pathogenicity Familial cavitary optic disk anomaly, Familial cavitary optic disk anomaly
RS767416221 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767416279 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS767417049 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS767417979 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS767418586 CDK9 Health Risk Pathogenic/Likely pathogenic —
RS767419411 PPOX Health Risk Pathogenic Variegate porphyria, childhood-onset
RS767422633 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS767423340 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS767424476 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, JAK3-related disorder
RS767424930 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS767425744 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS76742576 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS767426033 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS767426084 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, MYH9-related disorder
RS767426110 TECTA Health Risk Conflicting classifications of pathogenicity —
RS767426153 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS767426819 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS767427194 C1QBP Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 33, Mitochondrial disease
RS767427889 PHKG2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXc, Glycogen phosphorylase kinase deficiency
RS767428670 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease
RS767428982 CFB Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
RS767429245 TBX20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767429459 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS767430243 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS767430727 GPR179 Health Risk Likely pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS767432277 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CRB2-related disorder
RS767432719 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS767432973 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS767433001 POLH Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum
RS767433330 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS767433730 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS767434859 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS767435344 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767435461 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS767435492 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS767435985 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS767436158 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS767436221 BEST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767436678 RP1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS767438491 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS767438881 PDE6B Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS767441640 TMPRSS15 Health Risk Pathogenic —
RS767442221 RAB23 Health Risk Conflicting classifications of pathogenicity Carpenter syndrome, RAB23-related Carpenter syndrome
RS767442358 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinal dystrophy
RS767442671 CENPP Health Risk Likely pathogenic Low-frequency hearing loss, Low-frequency sensorineural hearing impairment
RS767443643 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS767444397 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS767445373 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS76744638 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS767447750 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS767448036 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS767449740 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS767449884 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS767450283 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS767450912 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767451031 ABCA4 Health Risk Pathogenic —
RS767451281 PI4KA Health Risk Likely pathogenic Polymicrogyria, perisylvian
RS767453024 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
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