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
RS6733774 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 28
RS67364703 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS67367843 OTC Health Risk Pathogenic —
RS6736791 NDUFA10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS67368147 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta with normal sclerae
RS67394386 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type I
RS67398234 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, arthrochalasia type
RS67414444 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS67416837 COL1A1 Health Risk Pathogenic —
RS67418243 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS6742078 UGT1A1 Health Risk Benign; association BILIRUBIN, SERUM LEVEL OF
RS67445413 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type I
RS67468335 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS67470842 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS67486158 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS6749719 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS67501347 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS67507747 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS6751967 IL1RL1 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS6752026 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS67525025 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS67543427 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS67543897 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS6755258 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Inborn genetic diseases
RS67561842 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS67569268 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS67586389 DCTN1 Health Risk Pathogenic Perry syndrome, Neuronopathy
RS67606936 MMAB;MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS67608943 PCSK9 Health Risk Conflicting classifications of pathogenicity Low density lipoprotein cholesterol level quantitative trait locus 1, Familial hypercholesterolemia
RS67609234 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta
RS67651903 OTC Health Risk Pathogenic —
RS67675951 COL1A2;COL1A2-AS1 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS67682641 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type I
RS67693970 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS67707918 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS67729041 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS67752076 OTC Health Risk Pathogenic —
RS67767715 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS67768540 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS67771061 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS67791546 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS67815019 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS67828806 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type 1, mild
RS67839036 OTC Health Risk Pathogenic —
RS67839039 OTC Health Risk Pathogenic —
RS67865220 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS67867306 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS67870244 OTC Health Risk Pathogenic —
RS67870245 OTC Health Risk Pathogenic —
RS67879854 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, 7 conditions
RS67890094 OTC Health Risk Pathogenic —
RS67891210 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS6790979 WNT5A Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS67916658 OTC Health Risk Pathogenic —
RS67939114 ALDH3A2 Health Risk Conflicting classifications of pathogenicity ALDH3A2-related disorder, Sjögren-Larsson syndrome
RS67939655 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, OTC-related disorder
RS67954347 OTC Health Risk Pathogenic —
RS67960011 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS67965462 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS67967266 HSPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS67993095 OTC Health Risk Pathogenic —
RS68018207 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS68026851 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS68031618 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS68033093 OTC Health Risk Pathogenic —
RS6804746 ACY1 Health Risk Conflicting classifications of pathogenicity Aminoacylase 1 deficiency, ACY1-related disorder
RS68058881 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS68062484 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS68063264 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS68071147 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS68114505 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type III
RS68132885 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS68170503 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS68181175 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS6848974 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS6850908 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS6874630 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS6880264 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS690016537 FAM136A Health Risk Pathogenic Meniere disease, Meniere disease
RS690016538 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS690016539 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS690016540 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS690016541 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS690016542 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS690016543 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease
RS690016544 STUB1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48
RS690016545 KIF5A Health Risk Pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS690016546 CSF1R Health Risk Pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS690016548 CSF1R Health Risk Pathogenic Hereditary diffuse leukoencephalopathy with spheroids, CSF1R-related disorder
RS690016549 CSF1R Health Risk Likely pathogenic —
RS690016551 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS690016554 CSF1R Health Risk Pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS690016556 CSF1R Health Risk Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS690016562 CSF1R Health Risk Pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS690016564 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Brain abnormalities
RS6925845 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS6926133 FKBP5 Health Risk Likely risk allele Susceptibility to severe depressive disorder, Susceptibility to severe depressive disorder
RS6929137 CCDC170 Health Risk Conflicting classifications of pathogenicity Estrogen resistance syndrome, CCDC170-related condition
RS696217 GHRL Health Risk Conflicting classifications of pathogenicity Metabolic syndrome, susceptibility to
RS6972869 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
« Prev 1 ... 3076 3077 3078 3079 3080 3081 3082 ... 4509 Next »

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

Get Started Free →