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
RS2113700191 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113700654 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113700906 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113701020 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113701022 DSP Health Risk Likely pathogenic —
RS2113701305 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2113701589 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113701771 DSP Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS2113701867 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113702255 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113702487 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113703361 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113703930 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2113704410 DSP Health Risk Likely pathogenic Familial isolated arrhythmogenic right ventricular dysplasia, Familial isolated arrhythmogenic right ventricular dysplasia
RS2113705206 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113716448 RIPK1 Health Risk Pathogenic —
RS2113726155 RIPK1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2113750654 HFE-AS1;HFE Health Risk Likely pathogenic Hemochromatosis type 1, Hemochromatosis type 1
RS2113754835 FBXW11 Health Risk Likely pathogenic Neurodevelopmental, jaw
RS2113769198 DTNBP1 Health Risk Pathogenic —
RS2113776541 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS2113777419 FBXW11 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental, jaw
RS2113778038 CSF1R Health Risk Pathogenic Brain abnormalities, neurodegeneration
RS2113778102 CSF1R Health Risk Pathogenic —
RS2113778146 CSF1R Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy, diffuse hereditary
RS2113778666 CSF1R Health Risk Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS2113779247 CSF1R Health Risk Conflicting classifications of pathogenicity CSF1R-Related Adult-Onset Leukoencephalopathy, CSF1R-Related Adult-Onset Leukoencephalopathy
RS2113779465 CSF1R Health Risk Pathogenic —
RS2113779576 CSF1R Health Risk Pathogenic/Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy
RS2113779595 CSF1R Health Risk Likely pathogenic Leukoencephalopathy, diffuse hereditary
RS2113784282 H4C3 Health Risk Likely pathogenic Tessadori-van Haaften neurodevelopmental syndrome 1, Tessadori-van Haaften neurodevelopmental syndrome 1
RS2113784630 H4C3 Health Risk Likely pathogenic Tessadori-van Haaften neurodevelopmental syndrome 1, Tessadori-van Haaften neurodevelopmental syndrome 1
RS2113785063 TUBB2A Health Risk Likely pathogenic —
RS2113785077 TUBB2A Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
RS2113785083 TUBB2A Health Risk Pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2113785156 TUBB2A Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
RS2113785178 TUBB2A Health Risk Pathogenic —
RS2113785454 TUBB2A Health Risk Pathogenic —
RS2113785529 TUBB2A Health Risk Likely pathogenic —
RS2113785613 TUBB2A Health Risk Likely pathogenic —
RS2113785705 TUBB2A Health Risk Pathogenic —
RS2113785712 TUBB2A Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2113787194 CSF1R Health Risk Likely pathogenic —
RS2113806114 RPS10 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2113807931 DTNBP1 Health Risk Likely pathogenic —
RS2113809084 CSF1R Health Risk Pathogenic —
RS2113810185 CSF1R Health Risk Pathogenic —
RS2113810317 DTNBP1 Health Risk Pathogenic —
RS2113818881 TUBB2B Health Risk Pathogenic/Likely pathogenic Tubulinopathy, Tubulinopathy
RS2113818913 TUBB2B Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS2113818998 TUBB2B Health Risk Pathogenic —
RS2113819002 TUBB2B Health Risk Likely pathogenic —
RS2113819014 TUBB2B Health Risk Conflicting classifications of pathogenicity —
RS2113819019 TUBB2B Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS2113819025 TUBB2B Health Risk Likely pathogenic —
RS2113819124 TUBB2B Health Risk Pathogenic —
RS2113819161 TUBB2B Health Risk Likely pathogenic —
RS2113819240 TUBB2B Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS2113819578 TUBB2B Health Risk Likely pathogenic —
RS2113820430 TUBB2B Health Risk Likely pathogenic —
RS2113824192 CSF1R Health Risk Likely pathogenic —
RS2113826875 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS2113826976 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS2113827110 H1-4 Health Risk Pathogenic —
RS2113838075 DCDC2 Health Risk Pathogenic Isolated neonatal sclerosing cholangitis, Isolated neonatal sclerosing cholangitis
RS2113838226 DCDC2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS2113838890 GUCA1A Health Risk Conflicting classifications of pathogenicity Cone dystrophy 3, Cone dystrophy 3
RS2113843664 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS2113874830 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS2113877345 TREM2 Health Risk Likely pathogenic —
RS2113887393 H4C11 Health Risk Pathogenic Tessadori-van Haaften neurodevelopmental syndrome 2, Tessadori-van Haaften neurodevelopmental syndrome 2
RS2113888986 PDGFRB Health Risk Pathogenic Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Basal ganglia calcification
RS2113894766 PDGFRB Health Risk Pathogenic/Likely pathogenic Myeloproliferative disorder, chronic
RS2113901025 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113901504 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113901553 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113901648 NKX2-5 Health Risk Pathogenic —
RS2113901862 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113901873 NKX2-5 Health Risk Likely pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113901914 NKX2-5 Health Risk Likely pathogenic —
RS2113901953 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113901956 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113902012 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113902216 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113902320 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113905914 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113905948 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113906009 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113906022 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113906167 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113906234 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Cardiovascular phenotype
RS2113906336 NKX2-5 Health Risk Pathogenic/Likely pathogenic Atrial septal defect 7, Cardiovascular phenotype
RS2113907045 PDGFRB Health Risk Likely pathogenic Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS2113920409 TFAP2B Health Risk Likely pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS2113929578 TFAP2B Health Risk Pathogenic —
RS2113937986 TFAP2B Health Risk Likely pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS2113949539 TFAP2B Health Risk Pathogenic Chronic intestinal pseudoobstruction, Chronic intestinal pseudoobstruction
RS2113952620 TFAP2B Health Risk Likely pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS2113960501 TFAP2B Health Risk Likely pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS2114014223 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
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