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
RS1791311163 SLC26A4 Health Risk Pathogenic —
RS1791316677 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS1791374798 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1791379124 ARID1B Health Risk Pathogenic —
RS1791383191 ASNS Health Risk Pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1791390525 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1791432323 TRRAP Health Risk Likely pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS1791435032 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS1791437854 TRRAP Health Risk Conflicting classifications of pathogenicity TRAPP-associated developmental delay, Developmental delay with or without dysmorphic facies and autism
RS1791439311 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS1791443181 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1791464742 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1791477416 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1791489630 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1791494228 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1791496184 SLC26A4 Health Risk Pathogenic —
RS1791503359 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1791504987 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1791508570 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1791519202 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1791523699 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1791525285 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1791526034 SLC26A4 Health Risk Pathogenic —
RS1791526110 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1791532136 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS1791543423 SAMD9 Health Risk Conflicting classifications of pathogenicity MIRAGE syndrome, Monosomy 7 myelodysplasia and leukemia syndrome 2
RS1791544171 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1791555145 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1791556897 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1791557468 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1791557727 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1791561360 RINT1 Health Risk Pathogenic —
RS1791570014 SAMD9 Health Risk Likely pathogenic MIRAGE syndrome, MIRAGE syndrome
RS1791577285 AUTS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1791584683 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1791586314 SAMD9 Health Risk Pathogenic Monosomy 7 myelodysplasia and leukemia syndrome 2, Monosomy 7 myelodysplasia and leukemia syndrome 2
RS1791602240 SAMD9 Health Risk Conflicting classifications of pathogenicity MIRAGE syndrome, Inborn genetic diseases
RS1791604504 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1791606733 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1791626037 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Inborn genetic diseases
RS1791633917 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1791668026 RINT1 Health Risk Pathogenic —
RS1791671293 RINT1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1791672042 RINT1 Health Risk Pathogenic —
RS1791673946 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS1791675675 SLC26A4 Health Risk Likely pathogenic —
RS1791675770 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Pendred syndrome
RS1791686622 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1791701214 CAPZA2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1791701248 CAPZA2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1791707016 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1791729069 CUX1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Global developmental delay with or without impaired intellectual development
RS1791737049 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1791755938 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1791756559 COL1A2 Health Risk Pathogenic Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
RS1791759246 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1791759301 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1791760028 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1791763088 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1791765505 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1791771616 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1791793058 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1791793398 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS1791806791 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS1791810429 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1791836120 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1791846977 SLC26A4 Health Risk Pathogenic SLC26A4-related disorder, SLC26A4-related disorder
RS1791847482 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1791857109 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1791858238 COL1A2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1791872095 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1791872386 ASNS Health Risk Pathogenic —
RS1791873485 SLC26A4 Health Risk Pathogenic —
RS1791878922 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1791894410 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS1791907178 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1791913210 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1791918216 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1791922830 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1791933271 PEX1 Health Risk Likely pathogenic —
RS1791938725 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1791941199 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1791951634 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1791951769 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1791952936 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1791962073 COL1A2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1791965061 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1791967656 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1791969383 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1791991940 COL1A2 Health Risk Likely pathogenic —
RS1792005848 PEX1 Health Risk Pathogenic —
RS1792008262 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS1792013807 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1792013985 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1792014859 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1792018845 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS1792031758 CFTR Health Risk Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS1792033327 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1792036190 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1792036942 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
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