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
RS1792043667 COL1A2 Health Risk Likely pathogenic —
RS1792043985 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1792044352 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1792048079 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS1792049376 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1792051187 CFTR Health Risk Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS1792080911 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1792099468 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1792099971 CFTR Health Risk Pathogenic —
RS1792100143 CFTR Health Risk Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS1792102061 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS1792104355 PEX1 Health Risk Likely pathogenic —
RS1792108068 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1792108270 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1792111046 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1792111444 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
RS1792120689 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1792123022 ASNS Health Risk Pathogenic ASNS-related disorder, ASNS-related disorder
RS1792124597 ASNS Health Risk Likely pathogenic —
RS1792127580 ARID1B Health Risk Pathogenic —
RS1792139807 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1792140365 SAMD9L Health Risk Pathogenic Monosomy 7 myelodysplasia and leukemia syndrome 1, Monosomy 7 myelodysplasia and leukemia syndrome 1
RS1792140624 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1792142540 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1792147522 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1792148801 COL1A2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, arthrochalasia type
RS1792149726 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1792149902 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1792186595 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B
RS1792213890 SAMD9L Health Risk Likely pathogenic Ataxia-pancytopenia syndrome, Ataxia-pancytopenia syndrome
RS1792222710 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1792226793 SAMD9L Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1792246412 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1792256171 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1792257312 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1792258600 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1792259695 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1792269292 COL1A2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1792298693 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1792305947 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS1792307406 CFTR Health Risk Pathogenic Cystic fibrosis, Hereditary pancreatitis
RS1792308325 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1792353123 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1792366769 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1792377306 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1792456313 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1792456337 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1792478147 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1792596054 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS1792647486 CFTR Health Risk Pathogenic Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis
RS1792671655 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1792676538 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1792801432 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS1792814581 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrin deficiency
RS1792826036 KCND2 Health Risk Pathogenic/Likely pathogenic Early myoclonic encephalopathy, Neurodevelopmental disorder
RS1792847005 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1792857897 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS1792860966 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1792861698 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1792868421 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS1792878019 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS1792914342 SBDS Health Risk Pathogenic Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
RS1792929407 RALA Health Risk Likely pathogenic —
RS1792935619 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1792935893 CFTR Health Risk Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS1792936385 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1792969582 SBDS Health Risk Pathogenic Shwachman-Diamond syndrome 1, Inborn genetic diseases
RS1793014648 SBDS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1793018926 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1793020065 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS1793020074 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1793021342 POLR1C Health Risk Pathogenic/Likely pathogenic Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
RS1793049226 EYA4 Health Risk Likely pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS1793062463 POLR1C Health Risk Pathogenic —
RS1793074319 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS1793076195 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1793076317 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1793080553 SBDS Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS1793090227 PDE8B Health Risk Likely pathogenic Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
RS1793092853 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1793108213 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS1793110279 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1793228690 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1793246524 ARID1B Health Risk Pathogenic —
RS1793251352 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1793254982 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1793298143 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1793304372 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1793342111 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1793379665 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1793383674 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1793395260 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1793398163 RNF216 Health Risk Pathogenic —
RS1793398751 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS1793402720 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1793524609 TRRAP Health Risk Pathogenic/Likely pathogenic Developmental delay with or without dysmorphic facies and autism, Hearing loss
RS1793536857 ERMARD Health Risk Likely pathogenic Periventricular nodular heterotopia 6, Periventricular nodular heterotopia 6
RS1793561613 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1793597181 KRIT1 Health Risk Pathogenic —
RS179363866 IKBKG Health Risk Pathogenic Immunodeficiency 33, Immunodeficiency 33
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