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
RS1553508187 BMPR2 Health Risk Pathogenic/Likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease, Idiopathic and/or familial pulmonary arterial hypertension
RS1553508231 COL3A1 Health Risk Likely pathogenic —
RS1553508238 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553508246 TTC21B Health Risk Likely pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS1553508321 BMPR2 Health Risk Likely pathogenic Primary pulmonary hypertension, Pulmonary arterial hypertension
RS1553508338 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553508368 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1553508463 COL3A1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Ehlers-Danlos syndrome
RS1553508473 COL3A1 Health Risk Pathogenic Congenital aneurysm of ascending aorta, Ehlers-Danlos syndrome
RS1553508534 COL3A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS1553508544 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553508711 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1553508863 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553508957 COL3A1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553508988 DYSF Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553509010 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553509023 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553509187 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553509193 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1553509208 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1553509300 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553509303 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553509391 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553509397 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553509401 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1553509404 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553509430 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553509630 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1553509661 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553509726 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1553509744 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553509869 COL3A1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553509924 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1553509934 COL3A1 Health Risk Likely pathogenic —
RS1553509983 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS1553509984 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS1553509997 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1553510000 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1553510171 TBR1 Health Risk Likely pathogenic Moderate global developmental delay, Autistic behavior
RS1553510182 TBR1 Health Risk Likely pathogenic Attention deficit hyperactivity disorder, Moderate global developmental delay
RS1553510186 TBR1 Health Risk Likely pathogenic —
RS1553510215 TBR1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553510217 TBR1 Health Risk Likely pathogenic Severe global developmental delay, Autistic behavior
RS1553510219 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS1553510280 TBR1 Health Risk Pathogenic/Likely pathogenic Autistic behavior, Moderate global developmental delay
RS1553510301 TBR1 Health Risk Pathogenic/Likely pathogenic Severe global developmental delay, Autistic behavior
RS1553510303 TBR1 Health Risk Likely pathogenic Moderate global developmental delay, Moderate global developmental delay
RS1553510313 TBR1 Health Risk Likely pathogenic Moderate global developmental delay, Autistic behavior
RS1553510385 TBR1 Health Risk Likely pathogenic Moderate global developmental delay, Autistic behavior
RS1553510472 TBR1 Health Risk Likely pathogenic —
RS1553510492 TBR1 Health Risk Pathogenic/Likely pathogenic Moderate global developmental delay, Atypical behavior
RS1553510520 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553510677 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS1553510679 TBR1 Health Risk Likely pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS1553510680 TBR1 Health Risk Likely pathogenic Moderate global developmental delay, Autistic behavior
RS1553510944 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553511083 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1553511175 TBR1 Health Risk Pathogenic/Likely pathogenic Moderate global developmental delay, Autistic behavior
RS1553511216 TBR1 Health Risk Likely pathogenic Severe global developmental delay, Autistic behavior
RS1553511224 TBR1 Health Risk Likely pathogenic Severe global developmental delay, 10 conditions
RS1553511226 TBR1 Health Risk Likely pathogenic Severe global developmental delay, Autistic behavior
RS1553511326 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553511680 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1553511785 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553511789 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1553512225 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553512393 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1553512523 BMPR2 Health Risk Pathogenic —
RS1553512642 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1553512813 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553512879 CERKL Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1553513387 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553513429 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553513433 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553513437 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1553513641 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1553513657 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1553513864 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1553513971 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1553514506 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1553514799 COL5A2 Health Risk Likely pathogenic —
RS1553515318 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1553515430 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553515435 CERKL Health Risk Likely pathogenic Severe photosensitivity, Macular dystrophy
RS1553515438 LIPT1 Health Risk Conflicting classifications of pathogenicity —
RS1553515473 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553515517 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1553515794 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1553516241 TTC21B Health Risk Pathogenic SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY
RS1553516443 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553516660 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553516687 TTC21B Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1553516759 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553517092 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553517122 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553517123 HOXD13 Health Risk Pathogenic —
RS1553517128 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553517142 NEB Health Risk Likely pathogenic —
RS1553517203 SCN3A Health Risk Likely pathogenic —
RS1553517224 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
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