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
RS2116030992 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2116031354 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116032687 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS2116032755 CFTR Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS2116032944 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116033063 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116039575 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116039871 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116052322 GNAI1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, impaired speech
RS2116059096 PEX1 Health Risk Likely pathogenic —
RS2116059303 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116059937 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116059954 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116059968 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116062196 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116062284 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116064778 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2116069671 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS2116069700 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116077400 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116077430 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS2116084282 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116085156 CFTR Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS2116085331 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116091512 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116091859 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116094537 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
RS2116095487 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2116098601 RALA Health Risk Likely pathogenic —
RS2116098628 RALA Health Risk Pathogenic Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
RS2116098682 RALA Health Risk Likely pathogenic Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
RS2116098885 RALA Health Risk Pathogenic Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
RS2116098893 RALA Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2116102196 VPS41 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 29
RS2116110975 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116116365 CAV1 Health Risk Pathogenic Partial lipodystrophy, congenital cataracts
RS2116117201 CAV1 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2116129596 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS2116129829 CFTR Health Risk Pathogenic Hereditary pancreatitis, Cystic fibrosis
RS2116132444 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS2116145117 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116145324 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116146598 KCND2 Health Risk Likely pathogenic —
RS2116155540 OGDH Health Risk Pathogenic Oxoglutaricaciduria, Oxoglutaricaciduria
RS2116156265 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116156361 MDFIC Health Risk Likely pathogenic —
RS2116163953 OGDH Health Risk Pathogenic Oxoglutaricaciduria, Oxoglutaricaciduria
RS2116165809 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116165935 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116166262 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116166586 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2116166673 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116166758 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116166806 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS2116175944 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger)
RS2116180739 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116181485 PEX1 Health Risk Pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2116181877 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116201860 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2116202376 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2116205361 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger)
RS2116206966 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2116209376 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116219533 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2116220618 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2116220949 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger)
RS2116221384 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2116222206 LEP Health Risk Pathogenic —
RS2116226142 CFTR Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS2116226496 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS2116226651 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2116243800 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116244185 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS2116245323 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS2116245705 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116247732 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger)
RS2116258970 PCLO Health Risk Likely pathogenic —
RS2116268406 CDK13 Health Risk Pathogenic —
RS2116268939 CDK13 Health Risk Pathogenic Congenital heart defects, dysmorphic facial features
RS2116269944 PCLO Health Risk Pathogenic —
RS2116271469 DLD Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2116273912 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2116277809 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2116298327 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2116299216 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116300979 LAMB1 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, LEUKOENCEPHALOPATHY WITHOUT LACUNAE
RS2116309484 LAMB1 Health Risk Likely pathogenic —
RS2116310614 CDK13 Health Risk Likely pathogenic —
RS2116327253 LAMB1 Health Risk Likely pathogenic Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS2116327525 CDK13 Health Risk Pathogenic —
RS2116327857 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS2116347776 TSPAN12 Health Risk Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS2116347903 TSPAN12 Health Risk Pathogenic —
RS2116348265 TSPAN12 Health Risk Pathogenic —
RS2116348290 TSPAN12 Health Risk Pathogenic —
RS2116363345 TSPAN12 Health Risk Pathogenic —
RS2116363773 TSPAN12 Health Risk Pathogenic —
RS2116373070 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS2116373517 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2116374801 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
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