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
RS1585483312 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585502089 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585517902 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1585521874 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585536813 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585557752 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1585559122 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1585561400 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1585563087 RP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1585563204 RP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1585563283 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1585563328 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1585563965 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1585564175 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1585564369 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1585567204 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1585569717 RP1 Health Risk Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS1585616825 TWIST1 Health Risk Likely pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS1585616860 TWIST1 Health Risk Pathogenic Robinow-Sorauf syndrome, Robinow-Sorauf syndrome
RS1585616948 TWIST1 Health Risk Pathogenic/Likely pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS1585616989 TWIST1 Health Risk Likely pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1585617015 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS1585617108 TWIST1 Health Risk Pathogenic TWIST1-related disorder, Saethre-Chotzen syndrome
RS1585617240 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS1585617402 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1585617611 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1585617794 TWIST1 Health Risk Likely pathogenic —
RS1585617865 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1585645384 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1585645641 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1585646282 AUTS2 Health Risk Likely pathogenic —
RS1585653028 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1585653240 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1585667374 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1585684790 GATA4 Health Risk Pathogenic 46, XY sex reversal 3
RS1585690632 LYN Health Risk Pathogenic LYN kinase associated vasculopathy and liver fibrosis syndrome, Autoinflammatory disease
RS1585694219 AUTS2 Health Risk Pathogenic —
RS1585701007 AUTS2 Health Risk Likely pathogenic —
RS1585703301 GATA4 Health Risk Pathogenic Atrial septal defect 2, Atrial septal defect 2
RS1585706802 GATA4 Health Risk Likely pathogenic —
RS1585717154 EYA1 Health Risk Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1585774873 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS1585808059 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1585812463 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1585817892 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1585820240 EYA1 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1585841844 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS1585896928 ERLIN2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1585907153 ERLIN2 Health Risk Pathogenic —
RS1585919102 ERLIN2 Health Risk Likely pathogenic —
RS1585930903 BRAF Health Risk Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 1, RASopathy
RS1585942791 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1585959862 RP1L1 Health Risk Pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS1585963931 RP1L1 Health Risk Pathogenic Retinitis pigmentosa 88, Autosomal recessive retinitis pigmentosa
RS1585981462 CNGB3 Health Risk Pathogenic —
RS1585981514 CNGB3 Health Risk Pathogenic —
RS1585998247 BRAF Health Risk Pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
RS1586003680 CNGB3 Health Risk Pathogenic Achromatopsia, Achromatopsia
RS1586015221 BRAF Health Risk Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 1, RASopathy
RS1586022262 SLC20A2 Health Risk Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1586024147 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1586025869 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1586033745 GSR Health Risk Pathogenic Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
RS1586035111 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586040200 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1586043528 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1586043675 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1586043842 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1586047969 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia, Achromatopsia 3
RS1586051330 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1586052622 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586052851 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586052920 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586053378 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586053399 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586053587 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1586054199 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586054483 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1586058444 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586058892 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1586059584 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1586065938 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1586067642 CUX1 Health Risk Pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS1586069639 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS1586070043 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS1586070089 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS1586072383 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1586074742 TMEM67 Health Risk Pathogenic Joubert syndrome 1, Joubert syndrome 1
RS1586075690 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1586075907 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586075954 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586076299 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1586076321 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1586083500 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1586086338 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1586086585 NBN Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1586086621 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1586088347 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586088503 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1586088924 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
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