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
RS2517153214 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS2517154868 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517154875 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517155046 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517158918 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS2517159112 IL17RA Health Risk Likely pathogenic Immunodeficiency 51, Immunodeficiency 51
RS2517164324 IL17RA Health Risk Likely pathogenic Chronic mucocutaneous candidiasis, Chronic mucocutaneous candidiasis
RS2517164422 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517164471 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517164580 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS2517164767 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517165249 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517165274 ITGB2 Health Risk Pathogenic/Likely pathogenic ITGB2-related disorder, Leukocyte adhesion deficiency 1
RS2517165410 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2517165422 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517165576 ITGB2 Health Risk Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS2517166028 IL17RA Health Risk Likely pathogenic Immunodeficiency 51, Immunodeficiency 51
RS2517166188 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517166359 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517166376 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2517168002 CNOT3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517169913 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2517170083 RTEL1 Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2517170616 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517170691 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517171405 CSTB Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2517176017 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS2517176522 USP18 Health Risk Likely pathogenic Pseudo-TORCH syndrome 2, Pseudo-TORCH syndrome 2
RS2517186228 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517193276 CFAP298 Health Risk Likely pathogenic —
RS2517194487 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2517197688 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517201426 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517201429 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517202795 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517203592 RTEL1 Health Risk Pathogenic Telomere syndrome, Telomere syndrome
RS2517203807 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2517204124 LSS Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517219435 GNAS Health Risk Pathogenic —
RS2517226100 GNAS Health Risk Pathogenic —
RS2517226164 GNAS Health Risk Conflicting classifications of pathogenicity —
RS2517227084 GNAS Health Risk Likely pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2517241190 GNAS Health Risk Likely pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2517248105 ITSN1 Health Risk Likely pathogenic —
RS2517248411 LSS Health Risk Pathogenic —
RS2517248473 GNAS Health Risk Pathogenic —
RS2517248665 GNAS Health Risk Likely pathogenic GNAS-related disorder, GNAS-related disorder
RS2517250354 LSS Health Risk Pathogenic —
RS2517251814 SLC25A1 Health Risk Pathogenic —
RS2517255245 SLC25A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517256882 CNOT3 Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, autism
RS2517258594 GNAS Health Risk Pathogenic —
RS2517258643 SLC25A1 Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS2517258834 SLC25A1 Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS2517259277 GNAS Health Risk Likely pathogenic —
RS2517260777 GNAS Health Risk Pathogenic —
RS2517261214 GNAS Health Risk Likely pathogenic Disorders of GNAS Inactivation, Disorders of GNAS Inactivation
RS2517261569 SLC25A1 Health Risk Likely pathogenic SLC25A1-related disorder, SLC25A1-related disorder
RS2517261629 SLC25A1 Health Risk Pathogenic —
RS2517263486 LSS Health Risk Pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS2517269281 GNAS Health Risk Pathogenic —
RS2517269338 GNAS Health Risk Likely pathogenic Pseudohypoparathyroidism type I A, GNAS-related disorder
RS2517272238 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517273773 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS2517274485 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2517274830 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517274947 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517276433 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517279212 ADA2 Health Risk Likely pathogenic —
RS2517284734 GNAS Health Risk Likely pathogenic GNAS-related disorder, GNAS-related disorder
RS2517294181 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517294264 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517294280 CNOT3 Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, autism
RS2517294688 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517295940 GNAS Health Risk Likely pathogenic GNAS-related disorder, GNAS-related disorder
RS2517296065 MCM3AP Health Risk Pathogenic —
RS2517296110 GNAS Health Risk Pathogenic GNAS-related disorder, GNAS-related disorder
RS2517296553 GNAS Health Risk Pathogenic Pseudopseudohypoparathyroidism, GNAS-related disorder
RS2517297405 GNAS Health Risk Pathogenic —
RS2517305221 MCM3AP Health Risk Pathogenic —
RS2517308413 TSPEAR Health Risk Pathogenic Tooth agenesis, selective
RS2517308868 TSPEAR Health Risk Pathogenic —
RS2517308888 TSPEAR Health Risk Likely pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS2517320038 MCM3AP Health Risk Pathogenic —
RS2517325512 MCM3AP Health Risk Pathogenic —
RS2517325803 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2517327023 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517327457 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517328173 MCM3AP Health Risk Pathogenic —
RS2517329452 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2517329524 MCM3AP Health Risk Likely pathogenic —
RS2517333595 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2517340869 RSPH1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2517344412 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2517345434 MCM3AP Health Risk Likely pathogenic MCM3AP-related disorder, MCM3AP-related disorder
RS2517345941 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2517346791 CNOT3 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with speech delay, autism
RS2517346966 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Sneddon syndrome
RS2517349667 SON Health Risk Pathogenic —
RS2517350080 SON Health Risk Conflicting classifications of pathogenicity —
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