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
RS1554160246 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS1554160638 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS1554160743 MMUT Health Risk Pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS1554160919 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554161054 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554161865 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1554162016 ELOVL4 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 34, ELOVL4-related disorder
RS1554162178 ELOVL4 Health Risk Likely pathogenic —
RS1554162230 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1554162301 ELOVL4 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 34, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
RS1554162524 ELOVL4 Health Risk Likely pathogenic Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, ELOVL4-related disorder
RS1554162725 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554162761 H1-4 Health Risk Likely pathogenic —
RS1554162842 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1554162872 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS1554162894 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS1554163591 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1554163878 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1554163919 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS1554163929 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554163945 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS1554163958 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1554163993 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1554164078 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1554164096 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS1554164322 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1554166294 SLC35A1 Health Risk Pathogenic SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
RS1554166844 SLC35A1 Health Risk Pathogenic/Likely pathogenic SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
RS1554167673 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554168326 COL12A1 Health Risk Likely pathogenic Inborn genetic diseases, Global developmental delay
RS1554169267 CILK1 Health Risk risk factor Epilepsy, juvenile myoclonic
RS1554169280 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1554169319 COL12A1 Health Risk Likely pathogenic —
RS1554169353 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1554169460 CSNK2B Health Risk Pathogenic —
RS1554169462 CSNK2B Health Risk Pathogenic/Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS1554169567 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554169630 EYS Health Risk Pathogenic —
RS1554169967 CSNK2B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Poirier-Bienvenu neurodevelopmental syndrome
RS1554169984 CSNK2B Health Risk Pathogenic Inborn genetic diseases, 12 conditions
RS1554169990 CSNK2B Health Risk Pathogenic —
RS1554171033 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1554174425 RHAG Health Risk Pathogenic Overhydrated hereditary stomatocytosis, Overhydrated hereditary stomatocytosis
RS1554174796 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554174903 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554176343 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554176504 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554176517 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554180622 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1554181192 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1554181203 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease
RS1554181304 CD2AP Health Risk Pathogenic FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, Focal segmental glomerulosclerosis 3
RS1554182368 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS1554182405 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS1554182481 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS1554182507 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS1554182514 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS1554182632 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS1554182645 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS1554182935 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1554183012 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554183097 PKHD1 Health Risk Pathogenic —
RS1554183204 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554183235 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554183240 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554183320 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554183398 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554183432 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554183440 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1554183446 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554183480 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554183559 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554183588 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554183763 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554184177 MAP3K7 Health Risk Likely pathogenic —
RS1554184224 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1554184237 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1554185405 NSD1 Health Risk Pathogenic —
RS1554186385 GUCA1A;GUCA1ANB-GUCA1A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone dystrophy 3
RS1554186441 GUCA1A;GUCA1ANB-GUCA1A Health Risk Pathogenic Cone dystrophy 3, Cone dystrophy 3
RS1554186463 GUCA1A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1554186472 GUCA1A;GUCA1ANB-GUCA1A Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1554186583 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1554189042 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554189131 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1554189269 NSD1 Health Risk Pathogenic —
RS1554189447 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1554189482 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1554189490 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1554189512 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1554189720 NSD1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1554189871 NSD1 Health Risk Pathogenic —
RS1554189879 NSD1 Health Risk Pathogenic —
RS1554189941 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1554189972 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1554190214 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1554190247 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1554190262 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554190269 NSD1 Health Risk Pathogenic —
RS1554190292 NSD1 Health Risk Pathogenic —
« Prev 1 ... 809 810 811 812 813 814 815 ... 4509 Next »

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

Get Started Free →