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
RS2115712712 GNAI1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, impaired speech
RS2115726233 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2115727431 GNAI1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, impaired speech
RS2115733193 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2115742136 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2115753236 ASNS Health Risk Pathogenic —
RS2115753664 ASNS Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2115755676 ASNS Health Risk Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS2115760128 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2115760718 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2115764913 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2115767079 ASL Health Risk Pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4C
RS2115827317 SLC26A3 Health Risk Pathogenic —
RS2115832531 SLC26A3 Health Risk Pathogenic —
RS2115865220 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS2115874899 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115875189 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115875700 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115876295 COL1A2 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS2115877489 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS2115879081 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2115881240 COL1A2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2115882062 ZP3 Health Risk Likely pathogenic Oocyte maturation defect 3, Oocyte maturation defect 3
RS2115882158 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS2115885455 SLC26A3 Health Risk Likely pathogenic —
RS2115888140 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115890442 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115893133 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115894285 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2115896730 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2115898280 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS2115899372 COL1A2 Health Risk Likely pathogenic —
RS2115899670 COL1A2 Health Risk Likely pathogenic —
RS2115900875 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2115902212 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS2115902247 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS2115902456 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS2115902583 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS2115902766 CFTR Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS2115902837 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115903081 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS2115903565 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS2115903582 CFTR Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS2115914145 ZP3 Health Risk Pathogenic Empty ovarian follicle, Empty ovarian follicle
RS2115916781 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS2115917059 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115917155 COL1A2 Health Risk Pathogenic —
RS2115917195 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS2115917238 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, arthrochalasia type
RS2115917306 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115917320 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115921275 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS2115921279 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2115921523 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS2115921786 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2115924241 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2115924247 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115924490 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, arthrochalasia type
RS2115924495 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2115927860 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115930608 COL1A2 Health Risk Pathogenic —
RS2115931844 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, arthrochalasia type
RS2115931969 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2115932392 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2115933691 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2115933783 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2115934615 RELN Health Risk Likely pathogenic —
RS2115936945 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2115937116 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2115937855 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS2115937867 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2115938131 CFTR Health Risk Likely pathogenic —
RS2115938731 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2115940948 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115941022 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115941300 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2115941689 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2115946426 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115946490 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2115952213 COL1A2 Health Risk Pathogenic/Likely pathogenic —
RS2115952631 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2115953343 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115954840 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, COL1A2-related disorder
RS2115957148 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2115957255 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115957747 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115959456 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115959468 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2115959866 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115959912 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115959926 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2115961148 MDFIC Health Risk Pathogenic Lymphatic malformation 12, Lymphatic malformation 12
RS2115961955 COL1A2 Health Risk Pathogenic —
RS2115962248 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2115962258 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115967180 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2115969692 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2116017718 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116026958 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2116030305 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
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